[qwiz style=”width: auto !important; min-height: auto !important; border-width: 4px !important; border-color: #0099cc !important; ” align=”center”]

[h] Biochemistry Flashcards

[i] Master this session in just 5 minutes.

[q] ……….. remain in G0, regenerate from stem cells. Examples include Neurons, skeletal and cardiac muscle, and RBCs.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IFBlcm1hbmVudCBjZWxscy4=[Qq]

[q] …….. enter G1 from G0 when stimulated. Examples include hepatocytes, and lymphocytes.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IFN0YWJsZSAocXVpZXNjZW50KSBjZWxscy4=[Qq]

[q] ………. never go to G0, divide rapidly with a short G1. Most affected by chemotherapy. Examples include bone marrow, gut epithelium, skin, hair follicles, and germ cells.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IExhYmlsZSBjZWxscy4=[Qq]

[q] If the pentose is ribose, the nucleic acid is ………, but if the pentose is deoxyribose, the nucleic acid is ……..?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IFJOQSAocmlib251Y2xlaWMgYWNpZCksIEROQSAoZGVveHlyaWJvbnVjbGVpYyBhY2lkKS4=[Qq]

[q] ……. contain two rings in their structure. Examples include adenine (A) and guanine (G).

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IFB1cmluZXMu[Qq]

[q] ……. have only one ring. Examples include Cytosine (C), Thymine (T), and uracil (U).

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IFB5cmltaWRpbmVzLg==[Qq]

[q] Deamination of cytosine makes ………?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IHVyYWNpbC4=[Qq]

[q] Deamination of adenine makes ……….., Deamination of guanine makes ……..?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IGh5cG94YW50aGluZSwgeGFudGhpbmUu[Qq]

[q] Methylation of uracil makes …….?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IHRoeW1pbmUu[Qq]

[q] …….. = base + (deoxy)ribose (Sugar), but …….. = base + (deoxy)ribose + phosphaTe; linked by 3′-5′ phosphodiester bond.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IE51Y2xlb1NpZGUsIE51Y2xlb1RpZGUu[Qq]

[q] ……… content —> ↑ melting temperature of DNA.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IOKGkSBHLUMgKEMtRyBib25kcyBhcmUgbGlrZSBDcmF6eSBHbHVlKS4=[Qq]

[q] …….. is located outside of the nucleosome core and helps to package nucleosomes into more compact structures by binding and linking DNA between adjacent nucleosomes.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IEhpc3RvbmUgSDEu[Qq]

[q] ……. is Condensed, appears darker on EM, Transcriptionally inactive,  and sterically inaccessible.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IEhldGVyb2Nocm9tYXRpbi4=

Cg==

Cg==[Qq]

[q] ………. Less condensed, appears lighter on EM, Transcriptionally active, and sterically accessible.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IEV1Y2hyb21hdGluLg==

Cg==

Cg==[Qq]

[q] Histone methylation reversibly ……… DNA transcription.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IHJlcHJlc3Nlcy4=

Cg==

Cg==

JiM4MjExOyBIaXN0b25lIE1ldGh5bGF0aW9uIE1vc3RseSBNYWtlcyBETkEgTXV0ZS4=[Qq]

[q] Histone acetylation ……… DNA transcription.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IEFjdGl2YXRlLg==

Cg==

Cg==

JiM4MjExOyBIaXN0b25lIEFjZXR5bGF0aW9uIG1ha2VzIEROQSBBY3RpdmUu[Qq]

[q] Histone deacetylation ……… DNA transcription.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IERlY3JlYXNlLg==[Qq]

[q] ………. occurs during the S-phase (synthesis phase) of the cell cycle.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IEROQSByZXBsaWNhdGlvbi4=[Qq]

[q] In DNA replication, The template strand is scanned in the ……. direction and the newly synthesized strand is made in the …… direction.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IDPigLLihpI14oCyLCA14oCy4oaSM+KAsi4=[Qq]

[q] The substrates for DNA synthesis are the …….., whereas the substrates for RNA synthesis are the ………?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IGROVFBzLCBOVFBzLg==[Qq]

[q] ……. contains thymine, whereas …….. contains uracil.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IEROQSwgUk5BLg==[Qq]

[q] DNA polymerases require a …….., whereas RNA polymerases do not.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IHByaW1lci4=[Qq]

[q] DNA polymerases can correct mistakes (“proofreading”), whereas RNA polymerases cannot. DNA polymerases have ……. exonuclease activity for proofreading.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IDPigLIg4oaSIDXigLIu[Qq]

[q] …….. is a particular consensus sequence of base pairs in genome where DNA replication begins. May be single (prokaryotes) or multiple (eukaryotes).

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IE9yaWdpbiBvZiByZXBsaWNhdGlvbi4=

Cg==

Cg==[Qq]

[q] ………. is a Y-shaped region along DNA template where leading and lagging strands are synthesized.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IFJlcGxpY2F0aW9uIGZvcmsu

Cg==

Cg==[Qq]

[q] …….. unwinds DNA template at replication fork.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IEhlbGljYXNlLg==

Cg==

Cg==[Qq]

[q] ………. bind to the ssDNA and stabilize it, preventing premature reannealing of the ssDNA to dsDNA.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IFNpbmdsZS1zdHJhbmRlZCBiaW5kaW5nIHByb3RlaW5zLg==

Cg==

Cg==[Qq]

[q] ……….. create a single- or double-stranded break in the helix to relieve supercoiling tension of the dsDNA strand caused by the unwinding action of helicase.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IEROQSB0b3BvaXNvbWVyYXNlcy4=

Cg==

Cg==[Qq]

[q] ……….. inhibit eukaryotic topoisomerase I.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IElyaW5vdGVjYW4vdG9wb3RlY2FuLg==

Cg==

Cg==[Qq]

[q] ……… inhibit eukaryotic topoisomerase II.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IEV0b3Bvc2lkZS90ZW5pcG9zaWRlLg==

Cg==

Cg==[Qq]

[q] ………. inhibit prokaryotic topoisomerase II (DNA gyrase) and topoisomerase IV.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IEZsdW9yb3F1aW5vbG9uZXMu

Cg==

Cg==[Qq]

[q] ……… is A DNA-dependent RNA polymerase which makes an RNA primer on which DNA polymerase III can initiate replication.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]UHJpbWFzZS4=

Cg==

Cg==[Qq]

[q] DNA polymerase III has 5′ → 3′ synthesis and proofreads with …….. exonuclease activity.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IDPigLIg4oaSIDXigLIu

Cg==

Cg==[Qq]

[q] ……….. degrades RNA primer; replaces it with DNA.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IEROQSBwb2x5bWVyYXNlIEku[Qq]

[q] …….. Joins Okazaki fragments by Catalyzing the formation of a phosphodiester bond within a strand of double-stranded DNA.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IEROQSBsaWdhc2Uu

Cg==

Cg==[Qq]

[q] ……… is An RNA-dependent DNA polymerase that adds DNA to 3′ ends of chromosomes to avoid loss of genetic material with every duplication.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IFRlbG9tZXJhc2Uu

Cg==

Cg==[Qq]

[q] ………. is a type of mutation that result from codon base substitutions which code for the same amino acid.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IFNpbGVudCBtdXRhdGlvbnMu[Qq]

[q] ………. is a type of mutation characterized by base substitutions that result in the placement of an incorrect amino acid in a protein sequence.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IE1pc3NlbnNlIG11dGF0aW9ucy4=[Qq]

[q] ………. is a type of mutation that introduces a stop codon within gene sequences, resulting in the formation of shorter, truncated proteins.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IE5vbnNlbnNlIG11dGF0aW9ucy4=[Qq]

[q] ………. is a type of mutation characterized by mutation at a splice site –> retained intron in the mRNA –> larger protein with impaired or altered function.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IFNwbGljZSBzaXRlIG11dGF0aW9ucy4=[Qq]

[q] ………. is a type of mutation that result from deletion or insertion of bases that are not a multiple of Three. It is characterized by alteration of the reading frame of the genetic code, resulting in the formation of non-functional proteins.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IEZyYW1lc2hpZnQgbXV0YXRpb25zLg==[Qq]

[q] ……… is defective in xeroderma pigmentosum, which prevents repair of pyrimidine dimers that are formed as a result of ultraviolet light exposure.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IE51Y2xlb3RpZGUgZXhjaXNpb24gcmVwYWlyLg==

Cg==

Cg==[Qq]

[q] ………. is important in repair of spontaneous/toxic deamination by Base-specific Glycosylase removes altered base and creates AP site (apurinic/apyrimidinic), AP-Endonuclease, which cleaves the 5′ end. Lyase cleaves the 3′ end. DNA Polymerase-β fills the gap and DNA Ligase seals it.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IEJhc2UgZXhjaXNpb24gcmVwYWlyLg==

Cg==

Cg==[Qq]

[q] …………. is defective in Lynch syndrome (hereditary nonpolyposis colorectal cancer [HNPCC]).

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IE1pc21hdGNoIHJlcGFpci4=[Qq]

[q] …….. brings together 2 ends of DNA fragments to repair double-stranded breaks. Some DNA may be lost. Defective in ataxia telangiectasia.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IE5vbmhvbW9sb2dvdXMgZW5kIGpvaW5pbmcu[Qq]

[q] ……. Restores duplexes accurately without loss of nucleotides. A strand from the damaged dsDNA is repaired using a complementary strand from the intact homologous dsDNA as a template. Defective in breast/ovarian cancers with BRCA1 mutation and Fanconi anemia.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IEhvbW9sb2dvdXMgcmVjb21iaW5hdGlvbi4=[Qq]

[q] ………. in prokaryotes makes rRNA (most numerous RNA, rampant).

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IFJOQSBwb2x5bWVyYXNlIEku[Qq]

[q] ………. in prokaryotes makes mRNA (largest RNA, massive).

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IFJOQSBwb2x5bWVyYXNlIElJLg==[Qq]

[q] ………. in prokaryotes makes 5S rRNA, tRNA (smallest RNA, tiny).

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IFJOQSBwb2x5bWVyYXNlIElJSS4=[Qq]

[q] α-amanitin, found in Amanita phalloides (death cap mushrooms), inhibits ……….. (halting mRNA synthesis). Causes severe hepatotoxicity if ingested.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IFJOQSBwb2x5bWVyYXNlIElJLg==[Qq]

[q] ………. inhibits RNA polymerase in both prokaryotes and eukaryotes.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IEFjdGlub215Y2luIEQu[Qq]

[q] ……….. inhibits DNA-dependent RNA polymerase in prokaryotes.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IFJpZmFtcGluLg==[Qq]

[q] Though ………. are not directly translated into protein, its mutations can cause abnormal gene expression by altering the ability of RNA polymerase and transcription factors to bind.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IHByb21vdGVycy4=[Qq]

[q] In ………., most genes are composed of coding segments (exons) interrupted by noncoding segments (introns). Both exons and introns are transcribed in the nucleus. Introns are removed during processing of the RNA molecule in the nucleus.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IGV1a2FyeW90ZXMu[Qq]

[q] A 7-methylguanosine cap is added to the 5′ end while the RNA molecule is still being synthesized. The cap structure function as ………….?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IGEgcmlib3NvbWUtYmluZGluZyBzaXRlIGFuZCBhbHNvIGhlbHBzIHRvIHByb3RlY3QgdGhlIG1STkEgY2hhaW4gZnJvbSBkZWdyYWRhdGlvbi4=[Qq]

 

[q] A poly-A tail is attached to the 3′ end. In this process, poly-A polymerase adds the poly-A tail (about 200 As) to the new 3′ end. The poly-A tail function is ………….?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IHByb3RlY3RzIHRoZSBtZXNzYWdlIGFnYWluc3QgcmFwaWQgZGVncmFkYXRpb24gYW5kIGFpZHMgaW4gaXRzIHRyYW5zcG9ydCB0byB0aGUgY3l0b3BsYXNtLg==[Qq]

[q] Antibodies to spliceosomal snRNPs (anti-Smith antibodies) are highly specific for ……..?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IFNMRS4=[Qq]

[q] Synthetic …….. sequences can be introduced into cells to silence specific pathogenic genes (c-Myc oncogene) and are being explored as possible therapeutic agents.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IHNpUk5BLg==[Qq]

[q] ………. is where RNA polymerase II and multiple other transcription factors bind to DNA upstream from gene locus (AT-rich upstream sequence with TATA and CAAT boxes). Its mutation commonly results in dramatic ↓ in level of gene transcription.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IFByb21vdGVyIFNpdGUu[Qq]

[q] ……… may be located close to, far from, or even within (in an intron) the gene whose expression it regulates (variable locations).

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IEVuaGFuY2VycyBhbmQgc2lsZW5jZXJzLg==[Qq]

[q] The lac operon is negatively regulated by binding of the ……… protein to the operator locus.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IHJlcHJlc3Nvci4=

Cg==

Cg==[Qq]

[q] The lac operon is Positively regulated by …….. binding upstream from the promoter region.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IGNBTVAtQ0FQLg==

Cg==

Cg==[Qq]

[q] ……….. —-> unbinds repressor protein from repressor/operator site —> ↑ transcription.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IEhpZ2ggbGFjdG9zZS4=

Cg==

Cg==[Qq]

[q] ……… —-> ↑ adenylate cyclase activity —> ↑ generation of cAMP from ATP —-> activation of catabolite activator protein (CAP) —-> ↑ transcription.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IExvdyBnbHVjb3NlLg==[Qq]

[q] …….. contains the TΨC (ribothymidine, pseudouridine, cytidine) sequence necessary for tRNA-ribosome binding.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IFQtYXJtLiBULWFybSBUZXRoZXJzIHRSTkEgbW9sZWN1bGUgdG8gcmlib3NvbWUu

Cg==

Cg==[Qq]

[q] ……. contains dihydrouridine residues necessary for tRNA recognition by the correct aminoacyl-tRNA synthetase.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IEQtYXJtLiBELWFybSBEZXRlY3RzIHRoZSB0Uk5BIGJ5IGFtaW5vYWN5bC10Uk5BIHN5bnRoZXRhc2Uu

Cg==

Cg==[Qq]

[q] ………. is located on the opposite end of the tRNA molecule. It recognizes and binds the mRNA codon and assures placement of the proper amino acid in the growing polypeptide chain.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IFRoZSBhbnRpY29kb24u

Cg==

Cg==[Qq]

[q] Amino acid activation and attachment to the 3′ end of tRNA is catalyzed by ………..?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IGFtaW5vYWN5bC10Uk5BIHN5bnRoZXRhc2VzIChBQS10Uk5BIHN5bnRoZXRhc2VzLCB1c2VzIEFUUCku

Cg==

Cg==[Qq]

[q] tRNA that is mischarged with the incorrect amino acid (and not corrected by AA-tRNA synthetase proofreading) will incorporate ………. into the growing polypeptide chain

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IHRoZSB3cm9uZyBhbWlubyBhY2lkLiBUaGVyZSBpcyBubyBhbWlubyBhY2lkIHByb29mcmVhZGluZyBkdXJpbmcgcHJvdGVpbiB0cmFuc2xhdGlvbi4=[Qq]

[q] Because of the degeneracy of the code, certain tRNA molecules can recognize multiple different codons coding for the same amino acid, a phenomenon explained by the ………….?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]ICYjODIyMDt3b2JibGUmIzgyMjE7IGh5cG90aGVzaXMu

Cg==

Cg==[Qq]

[q] Translation occurs in the (cytoplasm or nucleus) of both prokaryotic (Pr) and eukaryotic (Eu) cells?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IGN5dG9wbGFzbS4=[Qq]

[q] In prokaryotes, the small subunit binds to ……….., but in eukaryotes, the small subunit binds to ………?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IHRoZSBTaGluZS1EYWxnYXJubyBzZXF1ZW5jZSBpbiB0aGUgNeKAsiB1bnRyYW5zbGF0ZWQgcmVnaW9uIG9mIHRoZSBtUk5BLCB0aGUgNeKAsiBjYXAgc3RydWN0dXJlLg==[Qq]

[q] Whenever protein synthesis occurs in a cell, a few copies of a particular protein may not fold correctly. These defective copies are covalently marked for destruction by the addition of ………?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IG11bHRpcGxlIGNvcGllcyBvZiB1YmlxdWl0aW4u

Cg==

Cg==[Qq]

[q] Defects in the ubiquitin-proteasome system have been implicated in some cases of ………?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IFBhcmtpbnNvbiBhbmQgQWx6aGVpbWVy4oCZcyBkaXNlYXNlLg==

Cg==

Cg==[Qq]

[q] ………… is the site of synthesis of secretory (exported) proteins and of N-linked oligosaccharide addition to many proteins.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IFJvdWdoIGVuZG9wbGFzbWljIHJldGljdWx1bS4=[Qq]

[q] Mucus-secreting goblet cells of the small intestine and antibody-secreting plasma cells are rich in ………..?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IFJFUi4=[Qq]

[q] …….. is the site of steroid synthesis and detoxification of drugs and poisons.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IFNtb290aCBlbmRvcGxhc21pYyByZXRpY3VsdW0u[Qq]

[q] Liver hepatocytes and steroid hormone-producing cells of the adrenal cortex and gonads are rich in …….?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IFNFUi4=[Qq]

[q] Absent or dysfunctional signal recognition particle (SRP) results in ………?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IHByb3RlaW5zIGFjY3VtdWxhdGlvbiBpbiB0aGUgY3l0b3NvbC4=[Qq]

[q] What is the most likely diagnosis?

2 years old child presenting with coarse facial features, clouded corneas, restricted joint movement, claw hand deformities, kyphoscoliosis, and high plasma levels of lysosomal enzymes?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IEktY2VsbCBkaXNlYXNlIChpbmNsdXNpb24gY2VsbCBkaXNlYXNlL211Y29saXBpZG9zaXMgdHlwZSBJSSku

Cg==

Cg==

SW5oZXJpdGVkIGx5c29zb21hbCBzdG9yYWdlIGRpc29yZGVyOyBkZWZlY3QgaW4gTi1hY2V0eWxnbHVjb3NhbWlueWwtMS1waG9zcGhvdHJhbnNmZXJhc2UgJiM4MjExOyZndDsgZmFpbHVyZSBvZiB0aGUgR29sZ2kgdG8gcGhvc3Bob3J5bGF0ZSBtYW5ub3NlIHJlc2lkdWVzIChtYW5ub3NlLTYtcGhvc3BoYXRlKSBvbiBnbHljb3Byb3RlaW5zICYjODIxMTsmZ3Q7IHByb3RlaW5zIGFyZSBzZWNyZXRlZCBleHRyYWNlbGx1bGFybHkgcmF0aGVyIHRoYW4gZGVsaXZlcmVkIHRvIGx5c29zb21lcy4=[Qq]

[q] What is the most likely diagnosis?

5 Years old child presenting with multiple fractures with minimal trauma + Blue sclerae +  Hearing loss + opalescent teeth that wear easily?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IE9zdGVvZ2VuZXNpcyBJbXBlcmZlY3RhLg==

Cg==

Cg==

R2VuZXRpYyBib25lIGRpc29yZGVyIChicml0dGxlIGJvbmUgZGlzZWFzZSkgY2F1c2VkIGJ5IGEgdmFyaWV0eSBvZiBnZW5lIGRlZmVjdHMgKG1vc3QgY29tbW9ubHkgQ09MMUExIGFuZCBDT0wxQTIpLg==

[Qq]

Most common form is autosomal dominant with ↓ production of normal type I collagen.

[q] What is the most likely diagnosis?

18 years old patient working in the circus presenting with hypermobile joints and very flexible body, hyperextensible skin and tendency to bleed (easy bruising)?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IEVobGVycy1EYW5sb3Mgc3luZHJvbWUu

Cg==

Cg==

RWhsZXJzLURhbmxvcyBzeW5kcm9tZSBpcyBhIGdyb3VwIG9mIHJhcmUgaGVyZWRpdGFyeSBkaXNvcmRlcnMgY2hhcmFjdGVyaXplZCBieSBkZWZlY3RpdmUgY29sbGFnZW4gc3ludGhlc2lzLg==

[Qq]

It can be caused by procollagen peptidase deficiency, which results in impaired cleavage of terminal propeptides in the extracellular space.

[q] What is the most likely diagnosis?

2 years old male child presenting with brittle, “kinky” hair, growth retardation, and hypotonia?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IE1lbmtlcyBkaXNlYXNlLg==

Cg==

Cg==

WC1saW5rZWQgcmVjZXNzaXZlIGNvbm5lY3RpdmUgdGlzc3VlIGRpc2Vhc2UgY2F1c2VkIGJ5IGltcGFpcmVkIGNvcHBlciBhYnNvcnB0aW9uIGFuZCB0cmFuc3BvcnQgZHVlIHRvIGRlZmVjdGl2ZSBNZW5rZXMgcHJvdGVpbiAoQVRQN0EpLg==

[Qq]

Leads to ↓ activity of lysyl oxidase (copper is a necessary cofactor).

[q] ……… takes place extracellularly and gives elastin its elastic properties.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IENyb3NzLWxpbmtpbmcu[Qq]

[q] Wrinkles of aging are due to ……. collagen and elastin production.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IOKGkyAoZGVjcmVhc2UpLg==[Qq]

[q] A congenital deficiency of ……….. results in excessive degradation of elastin in the lungs and liver, causing panacinar emphysema and cirrhosis, respectively.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IM6xMS1hbnRpdHJ5cHNpbi4=[Qq]

[q] What is the most likely diagnosis?

25 years old patient presenting with Tall with long extremities, tall tapering fingers; pectus carinatum, Subluxation of lenses upward and temporally?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IE1hcmZhbiBzeW5kcm9tZS4=

Cg==

Cg==[Qq]

[q] The cardiovascular lesions are the most potentially life-threatening in patient with marfan syndrome. The two most common cardiac abnormalities are ……..?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IG1pdHJhbCB2YWx2ZSBwcm9sYXBzZSBhbmQgY3lzdGljIG1lZGlhbCBkZWdlbmVyYXRpb24gb2YgdGhlIGFvcnRhLg==[Qq]

[q] What is the most likely diagnosis?

2 years old child presenting with recurrent sinopulmonary infections, chronic ear infections, conductive hearing loss, and situs inversus (dextrocardia on CXR)?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IEthcnRhZ2VuZXIgc3luZHJvbWUgKDHCsCBjaWxpYXJ5IGR5c2tpbmVzaWEpLg==[Qq]

[q] ……….. recognize double-stranded DNA sequences called palindromes (inverted repeats) usually of four to eight base pairs in length.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IFJlc3RyaWN0aW9uIGVuZG9udWNsZWFzZXMu[Qq]

[q] …….. can be identified by examining the sequence of only one strand. Draw a line through the center of the sequence (through the central base for palindromes with an odd number of nucleotides). If the sequence is folded along this line, the bases should pair.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IHBhbGluZHJvbWUu[Qq]

[q] ……….. is used for detection and visualization of specific DNA fragment using radiolabeled DNA probe.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IFNvdXRoZXJuIGJsb3Qu

Cg==

Cg==[Qq]

[q] ………. is similar to Southern blot, except that an RNA sample is electrophoresed. Useful for studying mRNA levels, which are reflective of gene expression.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IE5vcnRoZXJuIGJsb3Qu

Cg==

Cg==[Qq]

[q] ………. is used for detection and visualization of specific protein using Labeled antibody.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IFdlc3Rlcm4gYmxvdC4=

Cg==

Cg==[Qq]

[q] ……….. identifies DNA-binding proteins (transcription factors like c-Juna nd c-Fos, Histones) using labeled oligonucleotide probes.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IFNvdXRod2VzdGVybiBibG90Lg==

Cg==

Cg==[Qq]

[q] ……… is a molecular biology lab procedure used to amplify a desired fragment of DNA. Also Useful as a diagnostic tool (neonatal HIV, herpes encephalitis).

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IFBvbHltZXJhc2UgY2hhaW4gcmVhY3Rpb24u[Qq]

[q] Polymerase chain reaction requires …….. that are complementary to the regions of DNA flanking the segment of interest.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IEROQSBwcmltZXJzLg==

Cg==

Cg==[Qq]

[q] ………. is a Laboratory technique to assess size, granularity, and protein expression (immunophenotype) of individual cells in a sample. Commonly used in workup of hematologic abnormalities (paroxysmal nocturnal hemoglobinuria, fetal RBCs in mother’s blood) and immunodeficiencies (CD4 cell count in HIV).

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IEZsb3cgY3l0b21ldHJ5Lg==

Cg==

Cg==[Qq]

[q] ……… is a genome editing tool derived from bacteria. Not used clinically. Potential applications include removing virulence factors from pathogens, replacing disease-causing alleles of genes with healthy variants, and specifically targeting tumor cells.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IENSSVNQUi9DYXM5Lg==

Cg==

Cg==[Qq]

[q] …….. is used to profile gene expression levels of thousands of genes simultaneously to study certain diseases and treatments. Able to detect single nucleotide polymorphisms (SNPs) and copy number variations (CNVs) for a variety of applications including genotyping, clinical genetic testing, forensic analysis, cancer mutations, and genetic linkage analysis.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IE1pY3JvYXJyYXlzLg==

Cg==

Cg==[Qq]

[q] …….. is used to diagnose chromosomal imbalances (autosomal trisomies, sex chromosome disorders).

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IEthcnlvdHlwaW5nLg==

Cg==

Cg==[Qq]

[q] …….. is used for specific localization of genes and direct visualization of chromosomal anomalies at the molecular level:

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IEZsdW9yZXNjZW5jZSBpbiBzaXR1IGh5YnJpZGl6YXRpb24u

Cg==

Cg==[Qq]

[q] …… is an immunologic test used to detect the presence of either a specific antigen (HBsAg) or antibody (anti-HBs) in a patient’s blood sample. Direct tests for the antigen directly, while indirect tests for the antibody (thus indirectly testing for the antigen).

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IEVuenltZS1saW5rZWQgaW1tdW5vc29yYmVudCBhc3NheS4=

Cg==

Cg==[Qq]

[q] Which mode of inheritance has the following features?

– Because affected individuals must receive a disease-causing gene from an affected parent, the disease is typically observed in multiple generations of a pedigree.

– Because these genes are located on autosomes, males and females are affected in roughly equal frequencies.

– The dominant allele is shown in uppercase (A) and the recessive allele is shown in lowercase (a).

– The typical mating pattern is a heterozygous affected individual (Aa genotype) mating with a homozygous normal individual (aa genotype).

– The recurrence risk is thus 50%, and half the children, on average, will be affected with the disease.

– Common Examples: Familial hypercholesterolemia (LDL receptor deficiency), Huntington disease, Neurofibromatosis type 1, Marfan syndrome and Acute intermittent porphyria.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IEF1dG9zb21hbCBkb21pbmFudC4=

Cg==

Cg==[Qq]

[q] Which mode of inheritance has the following features?

– The offspring must inherit one copy of the disease-causing allele from each parent.

– Typically seen in only one generation of a pedigree (skipped generation).

– Males and females are affected in roughly equal frequencies.

– Most commonly, a homozygote is produced by the union of two heterozygous (carrier) parents. The recurrence risk for offspring of such matings is 25%.

– ↑ risk in consanguineous families.

– Common Examples: Sickle cell anemia, Cystic fibrosis, Phenylketonuria (PKU), Tay-Sachs disease (hexosaminidase A deficiency).

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IEF1dG9zb21hbCByZWNlc3NpdmUu

Cg==

Cg==[Qq]

[q] Which mode of inheritance has the following features?

– Skipped generations are seen.

– Seen much more commonly in males than in females.

– Male-to-male transmission is not seen.

– Common examples: Duchenne muscular dystrophy, Lesch-Nyhan syndrome (hypoxanthine-guanine phosphoribosyltransferase [HGPRT] deficiency) Glucose-6-phosphate dehydrogenase deficiency, Hemophilia A and B.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IFgtbGlua2VkIHJlY2Vzc2l2ZS4=

Cg==

Cg==

[Qq]

[q] Which mode of inheritance has the following features?

– The disease phenotype is seen in multiple generations of a pedigree; skipped generations are relatively unusual.

 

– Male-male transmission of the disease-causing mutation is not seen.

– Heterozygous females are affected.

– Transmitted through both parents. Mothers transmit to 50% of daughters and sons; fathers transmit to all daughters but no sons.

– Common examples: Hypophosphatemic rickets, Fragile X syndrome.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IFgtbGlua2VkIGRvbWluYW50Lg==

Cg==

Cg==

[Qq]

[q] Which mode of inheritance has the following features?

– Transmission of the disease is only from a female.

– All offspring of an affected female are affected.

– None of the offspring of an affected male is affected.

– Diseases are typically neuropathies and/or myopathies.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IE1pdG9jaG9uZHJpYWwgaW5oZXJpdGFuY2Uu[Qq]

[q] ……… describes the condition of having different organellar genomes (mutated and wild-type) within a single cell. For mitochondrial diseases, patients with more severe disease are those with a higher proportion of defective mitochondrial genomes within their cells.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IEhldGVyb3BsYXNteS4=

Cg==

Cg==[Qq]

[q] 2 patients with neurofibromatosis type 1 (NF1) have varying disease severity is an example of ……….?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IFZhcmlhYmxlIGV4cHJlc3Npdml0eS4=[Qq]

[q] Not all individuals with a mutant genotype show the mutant phenotype is an example of ………?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IEluY29tcGxldGUgcGVuZXRyYW5jZS4=[Qq]

[q] The occurrence of multiple phenotypic manifestations, often in different organ systems, because of a single genetic defect is an example of ……..?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IFBsZWlvdHJvcHku[Qq]

[q] Increased severity or earlier onset of disease in succeeding generations in Trinucleotide repeat diseases is an example of ……..?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IEFudGljaXBhdGlvbi4=

Cg==

Cg==[Qq]

[q] Mutations at different loci can produce a similar phenotype is an example of ……..?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IExvY3VzIGhldGVyb2dlbmVpdHku[Qq]

[q] Different mutations in the same locus produce the same phenotype is an example of ………?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IEFsbGVsaWMgaGV0ZXJvZ2VuZWl0eS4=[Qq]

[q] ………… is carried out by DNA methyltransferases that transfer methyl groups from methyl group donors (such as S-adenosyl-methionine) to cytosine residues in the DNA molecule.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IEROQSBpbXByaW50aW5nLg==[Qq]

[q] …….. occurs when the Paternal allele of the gene on chromosome 15 is deleted or mutated. It presents with hyperphagia, obesity, intellectual disability, hypogonadism, and hypotonia. 25% of cases due to maternal uniparental disomy.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IFByYWRlci1XaWxsaSBzeW5kcm9tZS4=[Qq]

[q] …….. occurs when the maternal allele of the gene on chromosome 15 is deleted or mutated. It presents with inappropriate laughter (“happy puppet”), seizures, ataxia, and severe intellectual disability. 5% of cases due to paternal uniparental disomy.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IEFuZ2VsTWFuIHN5bmRyb21lLg==[Qq]

[q] Offspring receives 2 copies of a chromosome from 1 parent and no copies from the other parent is an example of ………?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IFVuaXBhcmVudGFsIGRpc29teS4=[Qq]

[q] Female with turner syndrome has a karyotype of 45, X/46, XX. This is an example of ……..?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IFNvbWF0aWMgbW9zYWljaXNtLg==

Cg==

Cg==[Qq]

[q] If patient has a genetic disease, but his parents and his relatives don’t have the disease suspect ……..?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IGdvbmFkYWwgKG9yIGdlcm1saW5lKSBtb3NhaWNpc20u

Cg==

Cg==[Qq]

[q] Tendency for certain alleles at 2 linked loci to occur together more or less often than expected by chance is an example of …….?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IExpbmthZ2UgZGlzZXF1aWxpYnJpdW0u

Cg==

Cg==[Qq]

[q] Achondroplasia is an example of autosomal ………. disease.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IGRvbWluYW50Lg==[Qq]

[q] Hereditary spherocytosis is an example of autosomal ………. disease.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IGRvbWluYW50Lg==[Qq]

[q] Huntington disease is an example of autosomal ………. disease.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IGRvbWluYW50Lg==[Qq]

[q] Marfan syndrome is an example of autosomal ………. disease.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IGRvbWluYW50Lg==[Qq]

[q] Neurofibromatosis type 1 (von Recklinghausen disease) and Neurofibromatosis type 2

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IGRvbWluYW50Lg==[Qq]

[q] Cystic fibrosis is an example of autosomal ………. disease.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IHJlY2Vzc2l2ZS4=[Qq]

[q] Hemochromatosis is an example of autosomal ………. disease.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IHJlY2Vzc2l2ZS4=[Qq]

[q] Phenylketonuria is an example of autosomal ………. disease.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IHJlY2Vzc2l2ZS4=[Qq]

[q] Sickle cell anemia and Thalassemia are examples of autosomal ………. disease.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IHJlY2Vzc2l2ZS4=[Qq]

[q] What is the most likely diagnosis?

5 years old Caucasian child presenting with Recurrent sinopulmonary infections, Nasal polyps, clubbing of nails + Sweat chloride test showing chloride levels above 60 mM/L?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IEN5c3RpYyBmaWJyb3Npcy4=[Qq]

[q] ………. mutation causes abnormal protein folding and failure of glycosylation. The CFTR protein is degraded before it reaches the cell surface, causing its complete absence from the apical membrane of exocrine ductal epithelial cells.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IENGVFIgZ2VuZSBvbiBjaHJvbW9zb21lIDcu

Cg==

[Qq]

[q] The most commo organism to be isolated from cystic fibrosis patient in early infancy is ………… and in adolescence is ……….?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IFMgYXVyZXVzLCBQLiBhZXJ1Z2lub3NhLg==

Cg==

Cg==[Qq]

[q] Almost all male patients with cystic fibrosis have obstructive azoospermia from ……….?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IGNvbmdlbml0YWwgYmlsYXRlcmFsIGFic2VuY2Ugb2YgdGhlIHZhcyBkZWZlcmVucy4gVGhlIHZhcyBkZWZlcmVucyBmYWlscyB0byBkZXZlbG9wIGR1ZSB0byBhY2N1bXVsYXRpb24gb2YgaW5zcGlzc2F0ZWQgbXVjdXMgaW4gdGhlIGZldGFsIGdlbml0YWwgdHJhY3QsIHJlc3VsdGluZyBpbiBpbmZlcnRpbGl0eS4=[Qq]

[q] Meconium ileus is distal small bowel obstruction in a neonate due to abnormally dehydrated meconium is quite specific for ……….?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IGN5c3RpYyBmaWJyb3NpcyAoQ0YpLg==[Qq]

[q] Normal levels of ……….. and its metabolite, retinoic acid, are required to maintain orderly differentiation of specialized epithelia, including mucus-secreting columnar epithelium. When a deficiency state exists, the epithelium undergoes squamous metaplasia to a keratinizing epithelium.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IHZpdGFtaW4gQS4=[Qq]

[q] G6PD deficiency, Hemophilia A and, and Duchenne (and Becker) muscular dystrophy are examples of ……….?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IFgtbGlua2VkIHJlY2Vzc2l2ZSBkaXNvcmRlcnMu[Qq]

[q] What is the most likely diagnosis?

4 years old male child presenting with Walking difficulties, Clumsy, slow, waddling gait; cannot keep up with peers + Progressive weakness in proximal musculature, resulting in use of the hands to support weight on standing + bilateral Calf pseudohypertrophy + ↑ CK and aldolase?

 

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IER1Y2hlbm5lIG11c2N1bGFyIGR5c3Ryb3BoeSAoRE1EKS4=

Cg==

Jm5ic3A7

Cg==

[Qq]

[q] Duchenne muscular dystrophy (DMD) is typically due to ………?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IGZyYW1lc2hpZnQgb3Igbm9uc2Vuc2UgbXV0YXRpb25zIOKGkiB0cnVuY2F0ZWQgb3IgYWJzZW50IGR5c3Ryb3BoaW4gcHJvdGVpbiDihpIgcHJvZ3Jlc3NpdmUgbXlvZmliZXIgZGFtYWdlLg==[Qq]

[q] ………. is X-linked disorder typically due to non-frameshift deletions in dystrophin gene (partially functional instead of truncated). Less severe than Duchenne. Onset in adolescence or early adulthood.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IEJlY2tlciBtdXNjdWxhciBkeXN0cm9waHku

Cg==

Jm5ic3A7

Cg==

[Qq]

[q] What is the most likely diagnosis?

15 years old patient who is unable to release the hand after a handshake (grip myotonia), muscle wasting, cataracts, testicular atrophy, frontal balding, and arrhythmia?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IE15b3RvbmljIHR5cGUgMS4gQ1RHIHRyaW51Y2xlb3RpZGUgcmVwZWF0IGV4cGFuc2lvbiBpbiB0aGUgZHlzdHJvcGhpYSBteW90b25pY2EgcHJvdGVpbiBraW5hc2UgZ2VuZSAoRE1QSykgZ2VuZS4gQw==YXRhcmFjdHMsIA==[Qq]Toupee (early balding in men), Gonadal atrophy.

 

[q] What is the most likely diagnosis?

16 years old patient presenting with moderate mental retardation, severe language delay and aggressiveness + large jaw, large protruding ears, long thin face and prominent forehead and macroorchidism?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IEZyYWdpbGUgWCBzeW5kcm9tZS4gVHJpbnVjbGVvdGlkZSByZXBlYXQgZXhwYW5zaW9uIFsoQ0dHKW5dIG9jY3VycyBkdXJpbmcgb29nZW5lc2lzLiBUaGUgaW5jcmVhc2VkIG51bWJlciBvZiB0cmludWNsZW90aWRlIHJlcGVhdHMgY2F1c2VzIGh5cGVybWV0aHlsYXRpb24gb2YgdGhlIEZNUjEgZ2VuZSBsZWFkaW5nIHRvIGdlbmUgaW5hY3RpdmF0aW9uLg==

Cg==

Cg==[Qq]

[q] Trinucleotide repeat expansion diseases may show ………?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IEFudGljaXBhdGlvbiAoZGlzZWFzZSBzZXZlcml0eSDihpEgYW5kIGFnZSBvZiBvbnNldCDihpMgaW4gc3VjY2Vzc2l2ZSBnZW5lcmF0aW9ucyku

Cg==

Cg==[Qq]

[q] 95% of Down syndrome cases are due to ………?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IE1laW90aWMgbm9uZGlzanVuY3Rpb24uIE5vbmRpc2p1bmN0aW9uIGlzIGFsbW9zdCBhbHdheXMgb2YgbWF0ZXJuYWwgb3JpZ2luOyBpbmNyZWFzZWQgbWF0ZXJuYWwgYWdlIGlzIGEgcmlzayBmYWN0b3Iu[Qq]

[q] The most common viable chromosomal disorder and most common cause of genetic intellectual disability is ………..?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IERvd24gc3luZHJvbWUgKHRyaXNvbXkgMjEpLg==[Qq]

[q] What is the most likely diagnosis?

5 years old patient presenting with intellectual disability, flat facies, small mouth, slanted palpebral fissures, prominent epicanthal folds, single palmar crease, gap between 1st 2 toes, and Brushfield spots?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IERvd24gc3luZHJvbWUgKHRyaXNvbXkgMjEpLg==

Cg==

Cg==[Qq]

[q] The most common Cardiac defects in Down syndrome is ……..?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IEVuZG9jYXJkaWFsIGN1c2hpb24gZGVmZWN0IChhdHJpb3ZlbnRyaWN1bGFyIHNlcHRhbCBkZWZlY3QpIGFuZCB2ZW50cmljdWxhciBzZXB0YWwgZGVmZWN0IG1vc3Qgb2Z0ZW4gc2Vlbi4=[Qq]

[q] Gastrointestinal tract abnormalities are also identified in 10-15% of this patient population, and include ………..?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IGR1b2RlbmFsIGF0cmVzaWEsIEhpcnNjaHNwcnVuZyYjODIxNztzIGRpc2Vhc2UsIGFuZCB0cmFjaGVvZXNvcGhhZ2VhbCBmaXN0dWxhLg==[Qq]

[q] The extra copy of APP present in Down syndrome is thought to accelerate ……… and lead to ………..?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IGFteWxvaWQgYWNjdW11bGF0aW9uLCBlYXJseS1vbnNldCBBbHpoZWltZXImIzgyMTc7cyBkZW1lbnRpYS4=[Qq]

[q] Individuals with Down syndrome have a 10- to 20-fold increased risk of developing acute lymphoblastic leukemia, and their risk for developing ………. is also increased.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IGFjdXRlIG15ZWxvZ2Vub3VzIGxldWtlbWlhLg==[Qq]

[q] A finding of low AFP on triple test and ↑ nuchal translucency and hypoplastic nasal bone on ultrasound is associated with a diagnosis of ……… and is therefore an indication for amniocentesis for Karyotyping of fetal cells contained in amniotic fluid.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IERvd24gc3luZHJvbWUu[Qq]

[q] What is the most likely diagnosis?

3 months child presenting with Prominent occiput, Rocker-bottom feet, Intellectual disability, Nondisjunction, Clenched fists (with overlapping fingers), low-set Ears, micrognathia (small jaw), congenital heart disease, omphalocele?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IEVkd2FyZHMgc3luZHJvbWUgKHRyaXNvbXkgMTgpLg==[Qq]

[q] What is the most likely diagnosis?

2 months child presenting with Severe intellectual disability, rocker-bottom feet, microphthalmia, microcephaly, cleft liP/Palate, holoProsencephaly, Polydactyly, cutis aPlasia (congenital abscense of the skin), congenital heart disease, Polycystic kidney disease, omphalocele?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IFBhdGF1IHN5bmRyb21lICh0cmlzb215IDEzKS4=

Cg==

Jm5ic3A7

Cg==

[Qq]

[q] What is the most likely diagnosis?

4 years old child presenting with Microcephaly, moderate to severe intellectual disability, high-pitched crying/ meowing, epicanthal folds, and VSD.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IENyaS1kdS1jaGF0IHN5bmRyb21lLg==[Qq]

[q] What is the most likely diagnosis?

Distinctive “elfin” facies, intellectual disability, hypercalcemia (↑ sensitivity to vitamin D), well-developed verbal skills, extreme friendliness with strangers, and supravalvular aortic stenosis.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IFdpbGxpYW1zIHN5bmRyb21lLg==[Qq]

[q] What is the most likely diagnosis?

4 years old patient presenting with recurrent infections, absent thymic shadow, Hypocalcemia, and tetralogy of Fallot?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IERpR2VvcmdlIHN5bmRyb21lLg==[Qq]

[q] What is the most likely diagnosis?

12 years old patient presenting with Cleft palate, Abnormal facies, and tetralogy of Fallot?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IFZlbG9jYXJkaW9mYWNpYWwgc3luZHJvbWUu[Qq]

[q] Glucose entering the cell is trapped by phosphorylation using ATP. ……… is widely distributed in tissues, whereas ………. is found only in hepatocytes and pancreatic β-islet cells.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IEhleG9raW5hc2UsIGdsdWNva2luYXNlLg==

Cg==

Cg==[Qq]

[q] ……. is the rate-limiting enzyme and main control point in glycolysis. In this reaction, fructose 6-phosphate is phosphorylated to fructose 1,6-bisphosphate using ATP.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IFBGSy0xLg==

Cg==

Jm5ic3A7

Cg==

[Qq]

[q] Insulin activates …….., which converts a tiny amount of fructose 6-phosphate to fructose 2,6-bisphosphate (F2,6-BP). F2,6-BP activates PFK-1.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IFBGSy0yLg==[Qq]

[q] ……….. is the last enzyme in aerobic glycolysis which catalyzes a substrate-level phosphorylation of ADP using the high-energy substrate phosphoenolpyruvate (PEP).

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IHB5cnV2YXRlIGtpbmFzZS4=

Cg==

Cg==[Qq]

[q] ………. is used only in anaerobic glycolysis. It reoxidizes NADH to NAD, replenishing the oxidized coenzyme for glyceraldehyde 3-phosphate dehydrogenase by reducing pyruvate to lactate and oxidizing NADH to NAD.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IExhY3RhdGUgZGVoeWRyb2dlbmFzZS4=

Cg==

Jm5ic3A7

Cg==

[Qq]

[q] ………. yields 2 ATP/glucose by substrate-level phosphorylation. But ………. yields these 2 ATP/glucose plus 2 NADH/glucose that can be utilized for ATP production in the mitochondria.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IEFuYWVyb2JpYyBnbHljb2x5c2lzLCBBZXJvYmljIGdseWNvbHlzaXMu[Qq]

[q] In red blood cells, ……… represents the only pathway for ATP production, yielding a net 2 ATP/glucose.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IGFuYWVyb2JpYyBnbHljb2x5c2lzLg==[Qq]

[q] Erythrocytes have bisphosphoglycerate mutase, which produces 2,3-bisphosphoglycerate (BPG) from 1,3-BPG in glycolysis. This reaction bypasses an ATP-generating step of glycolysis, causing ……..?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IG5vIG5ldCBnYWluIGluIEFUUC4=

Cg==

Cg==[Qq]

[q] 2,3-BPG binds to the β-chains of hemoglobin A (HbA) and …… its affinity for oxygen.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IGRlY3JlYXNlcy4=

Cg==

Cg==[Qq]

[q] Excessive erythrocyte destruction in pyruvate kinase deficiency by the spleen causes splenomegaly due to ……..?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IHdvcmsgaHlwZXJ0cm9waHkgKHJlZCBwdWxwIGh5cGVycGxlc2lhKS4=[Qq]

[q] In patients with ………. deficiency, glycolysis is inhibited in strenuously exercising muscle as muscle cells cannot regenerate NAD. Consequently, high-intensity physical activity leads to muscle breakdown, pain, and fatigue as insufficient amounts of energy are being produced in the exercising muscle.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IGxhY3RhdGUgZGVoeWRyb2dlbmFzZS4=

Cg==

Cg==[Qq]

[q] What is the most likely diagnosis?

7 years old child presenting with galactosemia, galactosuria, and infantile cataracts?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IEdhbGFjdG9raW5hc2UgZGVmaWNpZW5jeS4gR2FsYWN0bw==a2luYXNlIGRlZmljaWVuY3kgaXMga2luZGVyIChiZW5pZ24gY29uZGl0aW9uKS4=

[Qq]

[q] What is the most likely diagnosis?

Newborn child presenting with failure to thrive, jaundice, hepatomegaly, and renal dysfunction (hyperchloremic metabolic acidosis, aminoaciduria), infantile cataracts, intellectual disability after beginning of breastfeeding?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IENsYXNzaWMgZ2FsYWN0b3NlbWlhLg==[Qq]

[q] In the polyol pathway, aldose reductase converts glucose into ………, which is slowly metabolized into ………. by sorbitol dehydrogenase.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IHNvcmJpdG9sLCBmcnVjdG9zZS4=

Cg==

Cg==[Qq]

[q] What is the most likely diagnosis?

21 years old patient presenting with fructosuria + the presence of reducing sugar in the urine + urine dipstick, however, is negative without any other significant symptoms?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IEVzc2VudGlhbCBmcnVjdG9zdXJpYS4=

Cg==

Cg==[Qq]

[q] What is the most likely diagnosis?

6 month old child presenting with Hypoglycemia, lethargy, vomiting, jaundice after after beginning to introduce fruits to the diet + Urine dipstick is ⊝ although reducing sugar are detected in the urine?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IEhlcmVkaXRhcnkgZnJ1Y3Rvc2UgaW50b2xlcmFuY2Uu

Cg==

Jm5ic3A7

Cg==

[Qq]

[q] Glucose-6-phosphate, mannose-6-phosphate, galactose-6-phosphate and glucose-1-phosphate must be metabolized via the rate-limiting PFK-1 step, which slows down their metabolism. But ……….., however, bypasses this step and therefore has the highest rate of metabolism.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IEZydWN0b3NlLTEtcGhvc3BoYXRlLg==

Cg==

Cg==[Qq]

[q] Pyruvate from aerobic glycolysis enters mitochondria, where it may be converted to ………. for entry into the citric acid cycle if ATP is needed, or for ……….. if sufficient ATP is present.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IGFjZXR5bC1Db0EsIGZhdHR5IGFjaWQgc3ludGhlc2lzLg==[Qq]

[q] Similar to pyruvate dehydrogenase, 2 enzyme complexes use thiamine like ……….. and …………..?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]

Cg==

zrEta2V0b2dsdXRhcmF0ZSBkZWh5ZHJvZ2VuYXNlIChjaXRyaWMgYWNpZCBjeWNsZSku
CkJyYW5jaGVkLWNoYWluIGtldG9hY2lkIGRlaHlkcm9nZW5hc2UgKG1ldGFib2xpc20gb2YgYnJhbmNoZWQtY2hhaW4gYW1pbm8gYWNpZHMpLg==[Qq]

[q] What is the most likely diagnosis?

3 years old child presenting with intellectual disability, seizures, , lactic acidosis, ↑ serum alanine?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IFB5cnV2YXRlIGRlaHlkcm9nZW5hc2UgY29tcGxleCBkZWZpY2llbmN5Lg==

Cg==

4oaRIGludGFrZSBvZiBrZXRvZ2VuaWMgbnV0cmllbnRzIChoaWdoIGZhdCAmYW1wOyBsb3cgY2FyYm9oeWRyYXRlIGRpZXQgd2l0aCDihpEgbHlzaW5lIGFuZCBsZXVjaW5lKS4=

Cg==

[Qq]

[q] ………… and …………. are exclusively ketogenic and would not lead to increased formation of lactic acid in Pyruvate dehydrogenase complex deficiency.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IExldWNpbmUgYW5kIGx5c2luZS4=[Qq]

[q] Isocitrate dehydrogenase, the major control enzyme of citric acid cycle is inhibited by ………… and activated by ………?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IE5BREggYW5kIEFUUCwgQURQLg==[Qq]

[q] Cyanide is a deadly poison because it binds irreversibly to ……….. preventing electron transfer to oxygen.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IGZlcnJpYyBpcm9uIG9mIGN5dG9jaHJvbWUgYS9hMyAoY29tcGxleCBJViku

Cg==

Cg==[Qq]

[q] ………. may be used as an antidote for cyanide poisoning if given rapidly. They convert hemoglobin to methemoglobin, which binds cyanide in the blood before reaching the tissues.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IE5pdHJpdGVzLg==

Cg==

Jm5ic3A7

Cg==

[Qq]

[q] Cyanide toxicity can be treated with an antidote such as …………, which directly binds cyanide molecules generating relatively nontoxic metabolites that are easily excreted in the urine.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IGh5ZHJveG9jb2JhbGFtaW4gb3Igc29kaXVtIHRoaW9zdWxmYXRlLg==

Cg==

Jm5ic3A7

Cg==

[Qq]

[q] ………… directly inhibit mitochondrial ATP synthase —-> No ATP is produced because electron transport stops with an ↑ proton gradient.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IE9saWdvbXljaW4u

Cg==

Cg==[Qq]

[q] ……….. ↑ permeability of membrane, causing a ↓ proton gradient and ↑ O2 consumption. ATP synthesis stops, but electron transport continues. Because the rate of the ETC increases, with no ATP synthesis, energy is released as heat.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IDIsNC1kaW5pdHJvcGhlbm9sICgyLDQtRE5QKS4=

Cg==

Cg==[Qq]

[q] ………….. is a mitochondrial enzyme requiring biotin. It is activated by acetyl-CoA (from β-oxidation).

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IFB5cnV2YXRlIGNhcmJveHlsYXNlLg==

Cg==

Cg==[Qq]

[q] ………… converts OAA to phosphoenolpyruvate (PEP) in a reaction that requires GTP.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IFBob3NwaG9lbm9scHlydXZhdGUgY2FyYm94eWtpbmFzZSAoUEVQQ0spLg==

Cg==

Jm5ic3A7

Cg==

[Qq]

[q] ………. in fed state causes ↑ PFK-2, ↓ 2,6- bisphosphosphatase activity leading to increased fructose 2,6-bisphosphate levels —> activate glycolysis and inhibit gluconeogenesis.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IEluc3VsaW4u

Cg==

Cg==[Qq]

[q] ……… in fasting state causes ↑ 2,6- bisphosphosphatase activity & ↓ PFK-2, leading to decreased fructose 2,6-bisphosphate levels and augmented gluconeogenesis.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IEdsdWNhZ29uLg==

Cg==

Cg==[Qq]

[q] The absence of ………….. in skeletal muscle accounts for the fact that muscle glycogen cannot serve as a source of blood glucose.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IGdsdWNvc2UtIDYtcGhvc3BoYXRhc2Uu[Qq]

[q] Gluconeogenesis requires expenditure of ATP that is provided by …………?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IM6yLW94aWRhdGlvbiBvZiBmYXR0eSBhY2lkcy4=[Qq]

[q] Glycogenolysis begins with ……….. shortening the glycogen chain by cleaving the alpha-1,4- glycosidic linkages between glucose residues through simple phosphorylation.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IGdseWNvZ2VuIHBob3NwaG9yeWxhc2Uu[Qq]

[q] Increased intracellular calcium is a more powerful activator of ……….. Release of sarcoplasmic calcium stores following neuromuscular acetylcholine stimulation allows for synchronization of skeletal muscle contraction and glycogen breakdown, providing the energy necessary for anaerobic muscle contraction.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IG11c2NsZSBQaG9zcGhvcnlsYXNlIGtpbmFzZSAoUEspLg==

Cg==

Cg==[Qq]

[q] What is the most likely diagnosis?

5 years old child presenting with profound fasting hypoglycemia, lactic acidosis,  hepatomegaly, Hyperlipidemia, and Hyperuricemia?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IFZvbiBHaWVya2UgZGlzZWFzZSAodHlwZSBJKSBkdWUgdG8gZGVmaWNpZW5jeSBvZiBHbHVjb3NlLTYtcGhvc3BoYXRhc2Uu[Qq]

[q] What is the most likely diagnosis?

1 years old child presenting with marked cardiomegaly, severe generalized hypotonia, exercise intolerance, macroglossia, and hepatomegaly with normal Blood glucose level?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IFBvbXBlIGRpc2Vhc2UgKHR5cGUgSUkpIGR1ZSBkZWZpY2llbmN5IG9mIGx5c29zb21hbCBlbnp5bWUgYWxwaGEgMSw0LWdsdWNvc2lkYXNlIChhY2lkIG1hbHRhc2UpLg==[Qq]

[q] What is the most likely diagnosis?

3 years old child presenting with mild hypoglycemia, hypertriglyceridemia, ketoacidosis, and hepatomegaly with accumulation of abnormally short outer dextrin-like structures in the cytosol of hepatocytes?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IENvcmkgZGlzZWFzZSAodHlwZSBJSUkpIGR1ZSB0byBkZWZpY2llbmN5IG9mIERlYnJhbmNoaW5nIGVuenltZS4=[Qq]

[q] What is the most likely diagnosis?

3 years old child presenting with poor exercise tolerance, painful Muscle cramps, Myoglobinuria (red urine) with strenuous exercise, and arrhythmia from electrolyte abnormalities with normal liver and normal blood glucose level?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IE1jQXJkbGUgZGlzZWFzZSAodHlwZSBWKSBkdWUgdG8gZGVmaWNpZW5jeSBvZiBTa2VsZXRhbCBtdXNjbGUgZ2x5Y29nZW4gcGhvc3Bob3J5bGFzZSAoTXlvcGhvc3Bob3J5bGFzZSku[Qq]

[q] The oxidative portion of HMP shunt is catalyzed by …………, the rate limiting enzyme of the HMP shunt.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IGdsdWNvc2UgNi1waG9zcGhhdGUgZGVoeWRyb2dlbmFzZS4=

Cg==

Cg==[Qq]

[q] The primary enzymes involved in the non-oxidative steps of the HMP shunt is transketolase.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IHRyYW5za2V0b2xhc2Uu

Cg==

Jm5ic3A7

Cg==

[Qq]

[q] What is the most likely diagnosis?

9 years old African American male presenting with episodic symptoms of hemolytic anemia especially after infections or taking drugs, jaundice + Heinz bodies and bite cells?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IEdsdWNvc2UtNi1waG9zcGhhdGUgZGVoeWRyb2dlbmFzZSBkZWZpY2llbmN5Lg==[Qq]

 

[q] Aerobic metabolism of one glucose molecule produces ….. net ATP via malate-aspartate shuttle (heart and liver), ….. net ATP via glycerol-3-phosphate shuttle (muscle).

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IDMyLCAzMC4=[Qq]

[q] The citrate shuttle transports acetyl CoA groups from the mitochondria to the cytoplasm for fatty acid synthesis. Acetyl CoA combines with oxaloacetate in the mitochondria to form citrate, but rather than continuing in the citric acid cycle, citrate is transported into the cytoplasm. Factors that indirectly promote this process include ……….?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IGluc3VsaW4gYW5kIGhpZ2gtZW5lcmd5IHN0YXR1cy4=

Cg==

Jm5ic3A7

Cg==

[Qq]

[q] Acetyl CoA is activated in the cytoplasm for incorporation into fatty acids by ……….., the rate-limiting enzyme of fatty acid biosynthesis. It requires ATP, Biotin, and CO2 (ABC Carboxylase).

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IGFjZXR5bCBDb0EgY2FyYm94eWxhc2Uu[Qq]

[q] …………. inhibits the action of mitochondrial carnitine acyltransferase, thereby inhibiting beta-oxidation of newly formed fatty acids.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IE1hbG9ueWwtQ29BLg==

Cg==

Cg==[Qq]

[q] ……. lacks glycerol kinase and is strictly dependent on glucose uptake to produce DHAP for triglyceride synthesis.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IEFkaXBvc2UgdGlzc3VlLg==

Cg==

Cg==[Qq]

[q] ……… Catalyzes esterification of 2⁄3 of plasma cholesterol.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IExlY2l0aGluLWNob2xlc3Rlcm9sIGFjeWx0cmFuc2ZlcmFzZSAoTENBVCku

Cg==

Cg==[Qq]

[q] ………. mediates transfer of cholesterol esters to other lipoprotein particles.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IENob2xlc3Rlcm9sIGVzdGVyIHRyYW5zZmVyIHByb3RlaW4u

Cg==

Cg==[Qq]

[q] ………. degrades TGs remaining in IDL.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IEhlcGF0aWMgbGlwYXNlLg==[Qq]

[q] …….. degrades TGs stored in adipocytes.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IEhvcm1vbmUtc2Vuc2l0aXZlIGxpcGFzZS4=[Qq]

[q] What is the most likely diagnosis?

13 years old patient presenting with abdominal distention, foul-smelling stool, failure to thrive, spinocerebellar degeneration, progressive ataxia, retinitis pigmentosa + Laboratory studies show very low plasma triglyceride and cholesterol levels, and chylomicrons, VLDLs, and apoB are entirely absent from the blood + Intestinal biopsy shows normal intestinal mucosal architecture, but the enterocytes contain clear or foamy cytoplasm which is more prominent at the tips of the villi + peripheral blood smear shows acanthocytes?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IEFiZXRhbGlwb3Byb3RlaW5lbWlhIGR1ZSB0byBkZWZpY2llbmN5IGluIEFwb0ItNDgsIEFwb0ItMTAwIChBdXRvc29tYWwgcmVjZXNzaXZlKS4=[Qq]

[q] What is the most likely diagnosis?

14 years old patient presenting with hyperlipidemia, pancreatitis (abdominal pain), eruptive skin xanthomas (small yellowish papules surrounded by erythema that occur mainly on extensor surfaces of extremities) and hepatosplenomegaly + labs show significantly increased with serum triglyceride concentrations above 1000 mg/dl?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IEh5cGVyY2h5bG9taWNyb25lbWlhIGR1ZSB0byBMaXBvcHJvdGVpbiBsaXBhc2Ugb3IgYXBvbGlwb3Byb3RlaW4gQy1JSSBkZWZpY2llbmN5Lg==[Qq]

[q] What is the most likely diagnosis?

20 years old patient presenting with ST elevation  MI + tendon (Achilles) xanthomas, Xanthelasma (a type of xanthoma usually found on the medial eyelids), and corneal arcus?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IEZhbWlsaWFsIGh5cGVyY2hvbGVzdGVyb2xlbWlhLg==[Qq]

[q] What is the most likely diagnosis?

24 years old patient presenting with Premature atherosclerosis, tubero-eruptive xanthomas, palmar xanthomas + labs show Chylomicrons, VLDL?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IER5c2JldGFsaXBvcHJvdGVpbmVtaWEu

Cg==

[Qq]

[q] Why Neither erythrocytes nor brain can use fatty acids and continue to rely on glucose during normal periods of fasting?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IEVyeXRocm9jeXRlcyBsYWNrIG1pdG9jaG9uZHJpYSwgYW5kIGZhdHR5IGFjaWRzIGRvIG5vdCBjcm9zcyB0aGUgYmxvb2QtYnJhaW4gYmFycmllciBlZmZpY2llbnRseS4=[Qq]

[q] Each round of fatty acid β-oxidation produces ………… Acetyl-CoA, the end product of each round of β-oxidation, is further oxidized to CO2 in the tricarboxylic acid (TCA) cycle, generating ………

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IDEgTkFESCwgMSBGQURIMiwgYW5kIDEgYWNldHlsLUNvQS4gMyBOQURILCAxIEZBREgyLCBhbmQgMSBHVFAu

Cg==

Cg==

[Qq]

[q] What is the most likely diagnosis?

8 years old child presenting with muscle weakness, exercise intolerance, cardiomyopathy + Hypoketotic hypoglycemia + accumulation of fatty acids in muscle biopsy?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IFN5c3RlbWljIHByaW1hcnkgY2Fybml0aW5lIGRlZmljaWVuY3ku[Qq]

[q] What is the most likely diagnosis?

10 years old child presenting with Hypoketotic hypoglycemia + vomiting, lethargy, seizures, coma, liver dysfunction, hyperammonemia?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IE1lZGl1bSBjaGFpbiBhY3lsLUNvQSBkZWh5ZHJvZ2VuYXNlIChNQ0FEKSBkZWZpY2llbmN5Lg==

Cg==

VHJlYXRtZW50OiBBdm9pZCBmYXN0aW5nIHdpdGggZnJlcXVlbnQgZmVlZGluZywgaGlnaC1jYXJib2h5ZHJhdGUsIGxvdy1mYXQgZGlldC4gTW9zdCBwYXRpZW50cyBsZWFkIHJlYXNvbmFibGUgbGl2ZXMgaWYgdGhleSB0YWtlIGZyZXF1ZW50IGNhcmJvaHlkcmF0ZSBtZWFscyB0byBhdm9pZCBwZXJpb2RzIG9mIGh5cG9nbHljZW1pYS4=[Qq]

[q] ……… represent an exception to the rule that fatty acids cannot be converted to glucose in humans.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IE9kZC1jYXJib24gZmF0dHkgYWNpZHMu

Cg==

Cg==[Qq]

[q] What is the most likely diagnosis?

1 year old child presenting with large anterior fontanelles, generalized hypotonia, seizures, and hepatomegaly + elevated plasma phytanic acid and VLCFA?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IFplbGx3ZWdlciBzeW5kcm9tZS4gQXV0b3NvbWFsIHJlY2Vzc2l2ZSBkaXNvcmRlciBvZiBwZXJveGlzb21lIGJpb2dlbmVzaXMgZHVlIHRvIG11dGF0ZWQgUEVYIGdlbmVzLg==[Qq]

[q] What is the most likely diagnosis?

4 years old patient presenting with scaly skin, ataxia, cataracts/night blindness, shortening of 4th toe, epiphyseal dysplasia + elevated plasma level of phytanic acid?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IFJlZnN1bSBkaXNlYXNlLg==[Qq]

[q] What is the most likely diagnosis?

5 years old male patient presenting with hyperactivity, muscle stiffness, hyperpigmentation of skin, and gonadal atrophy?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IEFkcmVub2xldWtvZHlzdHJvcGh5Lg==[Qq]

[q] RBCs cannot utilize ketones; they strictly use ………?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IGdsdWNvc2Uu[Qq]

[q] Because the liver lacks …………, it cannot metabolize the ketone bodies.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IHRoaW9waG9yYXNlLg==[Qq]

[q] What is the most likely diagnosis?

6 months old patient presenting with developmental delay, macrocephaly, fail to attain new skills and lose previously acquired milestones (sitting with support, head control, social smile) + “cherry-red” spot on macula + no hepatosplenomegaly + lysosomes with onion skin (lamellar lipid rings on electron microscopy)?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IFRheS1TYWNocyBkaXNlYXNlLg==

Cg==

RGVmaWNpZW50IGVuenltZTogSGVYb3NhbWluaWRhc2UgQSAo4oCcVEF5LVNhWOKAnSku

Cg==

[Qq]

Accumulated substrate: Accumulation of the cell membrane glycolipid GM2 ganglioside within cell lysosomes.

[q] What is the most likely diagnosis?

6 months old patient presenting with developmental delay, fail to attain new skills and lose previously acquired milestones (sitting with support, head control, social smile) + “cherry-red” spot on macula + hepatosplenomegaly + “foamy histiocytes”?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IE5pZW1hbm4tUGljayBkaXNlYXNlLg==

Cg==

RGVmaWNpZW50IGVuenltZTogU3BoaW5nb215ZWxpbmFzZS4=

Cg==

[Qq]

Accumulated substrate: Sphingomyelin.

No man picks (Niemann-Pick) his nose with his sphinger (sphingomyelinase).

[q] What is the most likely diagnosis?

2 years old patient presenting with hepatosplenomegaly, pancytopenia, osteoporosis, avascular necrosis of femur, bone crises + lipid-laden macrophages resembling crumpled tissue paper?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IEdhdWNoZXIgZGlzZWFzZS4=

Cg==

RGVmaWNpZW50IGVuenltZTogR2x1Y29jZXJlYnJvc2lkYXNlLg==

Cg==

[Qq]

Accumulated substrate: Glucocerebroside (β-glucosidase); treat with recombinant glucocerebrosidase.

[q] What is the most likely diagnosis?

2 years old patient presenting with developmental delay, fail to attain new skills and lose previously acquired milestones + ataxia and dementia?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IE1ldGFjaHJvbWF0aWMgbGV1a29keXN0cm9waHku

Cg==

RGVmaWNpZW50IGVuenltZTogQXJ5bHN1bGZhdGFzZSBBLg==

Cg==

[Qq]

Accumulated substrate: Cerebroside sulfate.

[q] What is the most likely diagnosis?

2 years old child presenting with episodic acroparesthesia (debilitating, burning neuropathic pain in the extremities), angiokeratomas (punctuate, dark red, non-blanching macules and papules that classically occur between the umbilicus and the knees), hypohidrosis?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IEZhYnJ5IGRpc2Vhc2UgKGFuZ2lva2VyYXRvbWEgY29ycG9yaXMgZGlmZnVzdW0pLg==

Cg==

RGVmaWNpZW50IGVuenltZTogzrEtZ2FsYWN0b3NpZGFzZSBBLg==

Cg==

[Qq]

Accumulated substrate: the globoside ceramide trihexoside accumulates in tissues.

Without enzyme replacement therapy, progressive renal insufficiency leading to renal failure and death may occur.

[q] What is the most likely diagnosis?

2 years old child presenting with Peripheral neuropathy, developmental delay, optic atrophy, globoid cells (giant, multinucleated cells)?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IEtyYWJiZSBkaXNlYXNlLg==

Cg==

Cg==

RGVmaWNpZW50IGVuenltZTogR2FsYWN0b2NlcmVicm9zaWRhc2Uu

[Qq]

Accumulated substrate: Galactocerebroside, psychosine.

[q] What is the most likely diagnosis?

2 years old male child presenting with mild Developmental delay, airway obstruction, aggressive behavior, hepatosplenomegaly?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IEh1bnRlciBzeW5kcm9tZS4=

Cg==

RGVmaWNpZW50IGVuenltZTogSWR1cm9uYXRlLTItc3VsZmF0YXNlLg==

Cg==

[Qq]

Accumulated substrate: Heparan sulfate, dermatan sulfate.

Hunters see clearly (no corneal clouding) and aggressively aim for the X (X-linked recessive).

[q] ………. is a relatively nontoxic substance, is the major carrier of excess nitrogen from tissues.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IEdsdXRhbWluZS4=

Cg==

Cg==[Qq]

[q] In the liver, alanine is transaminated by alanine aminotransferase to pyruvate with the amino group being transferred to α-ketoglutarate to form glutamate. Almost all aminotransferase enzymes use ……… as the amino group acceptor.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IGFscGhhLWtldG9nbHV0YXJhdGUu

Cg==

Cg==[Qq]

[q] ………….. is required to mediate the transamination reaction in the liver.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IFB5cmlkb3hhbCBwaG9zcGhhdGUgKFBMUCkgZGVyaXZlZCBmcm9tIHZpdGFtaW4gQjYu[Qq]

[q] Carbamoyl phosphate synthetase I (CPS) require the presence of ………., a molecule formed by NAGS, as this molecule acts as an allosteric activator of CPS.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IE4tYWNldHlsZ2x1dGFtYXRlIChOQUcpLg==

Cg==

Cg==[Qq]

[q] Carbamoyl phosphate then combines with ornithine to form citrulline in a reaction catalyzed by ………. in the mitochondrial matrix.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IG9ybml0aGluZSB0cmFuc2NhcmJhbW95bGFzZSAoT1RDKS4=[Qq]

[q] What is the most likely diagnosis?

8 years old male child presenting with episodes of vomiting, confusion/coma, asterixis and tachypnea + elevated blood glutamine, and decreased blood urea nitrogen (BUN) + ↑ orotic acid in blood and urine?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IE9ybml0aGluZSB0cmFuc2NhcmJhbXlsYXNlIGRlZmljaWVuY3ku[Qq]

[q]  Hyperammonemia cause Hepatic encephalopathy due to ……..?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]

Cg==

MS4gRGVwbGV0aW9uIG9mIM6xLWtldG9nbHV0YXJhdGUsIGNhdXNpbmcgaW5oaWJpdGlvbiBvZiB0aGUgS3JlYnMgY3ljbGUu

Cg==

[Qq]

2. Excess ammonia also depletes glutamate, an excitatory neurotransmitter, and causes accumulation of glutamine, resulting in astrocyte swelling and dysfunction.

3. Hyperammonemia increases the conversion of glutamate into glutamine by glutamine synthetase within astrocytes. The resulting increase in glutamine leads to hyperosmolarity and mitochondrial dysfunction, causing astrocytic swelling and impairment.

[q] ……… and ……… Ketogenic amino acids.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IExldWNpbmUgYW5kIEx5c2luZS4=[Qq]

[q] Arginine, histidine, and lysine are (acidic or basic) amino acids.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IGJhc2ljLg==[Qq]

[q] Primary structure of proteins is the sequence of amino acids linked by ……… bonds.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IGNvdmFsZW50IHBlcHRpZGUu

Cg==

Cg==[Qq]

[q] Proteins may also assume a secondary structure, such as the alpha-helix or beta-sheet. ………… are the principal stabilizing force for the secondary structure of proteins.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IEh5ZHJvZ2VuIGJvbmRzLg==

Cg==

Cg==[Qq]

[q] The catecholamine contents of the normal human adrenal medulla are approximately 80% epinephrine and 20% as norepinephrine. This epinephrine-heavy ratio is due to the positive effect of ………….. on the expression of the enzyme PNMT, which converts norepinephrine to epinephrine.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IGNvcnRpc29sLg==

Cg==

Cg==[Qq]

[q] What is the most likely diagnosis?

4 years old patient presenting with intellectual disability, growth retardation, seizures, blue eyes, fair complexion, eczema, musty body odor?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IFBoZW55bGtldG9udXJpYSBkdWXCoHRvIOKGkyBwaGVueWxhbGFuaW5lIGh5ZHJveHlsYXNlIG9yIOKGkyB0ZXRyYWh5ZHJvYmlvcHRlcmluIChCSDQpIGNvZmFjdG9yIChhdHlwaWNhbCBvciBtYWxpZ25hbnQgcGhlbnlsa2V0b251cmlhKS4=

Cg==

Cg==[Qq]

[q] ………. is a non-essential amino acid that becomes essential in the setting of phenylketonuria (PKU).

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IFR5cm9zaW5lLg==[Qq]

[q] Patients with malignant phenylketonuria have increased prolactin levels due to ……….?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IERlY3JlYXNlZCBCSDQgY2F1c2VzIGxvd2VyIGxldmVscyBvZiBkb3BhbWluZS4=[Qq]

[q] What is the most likely diagnosis?

3 months old child with his mother presenting with vomiting, poor feeding, urine smells like burnt sugar while changing the diapers?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IE1hcGxlIHN5cnVwIHVyaW5lIGRpc2Vhc2Uu

Cg==

Cg==[Qq]

[q] Some patients with MSUD improve with ………….. treatment, but most still require lifelong dietary restrictions.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IGhpZ2gtZG9zZSB0aGlhbWluZS4=

Cg==

Cg==[Qq]

[q] What is the most likely diagnosis?

3 years old child with his mother presenting with motion restriction, and significant pain, Bluish-black ear cartilage, and sclerae + urine turns black on prolonged exposure to air?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IEFsa2FwdG9udXJpYS4=

Cg==

Cg==[Qq]

[q] Alkaptonuria is an autosomal-recessive disorder in which deficiency of homogentisate oxidase blocks the metabolism of phenylalanine and tyrosine at the level of homogentisic acid, thereby preventing the conversion of ………..?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IHR5cm9zaW5lIHRvIGZ1bWFyYXRlLg==

Cg==

Cg==[Qq]

[q] What is the most likely diagnosis?

25 years old patient presenting with tall long extremities, long tapering fingers, pectus exacavatum, downward and inward lens subluxation, with a previous history of MI?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IEhPTU9DWXN0aW51cmlhOg==
CiYjODIxMTsg4oaR4oaRIEhvbW9jeXN0ZWluZSBpbiB1cmluZSwgT3N0ZW9wb3Jvc2lzLCBNYXJmYW5vaWQgaGFiaXR1cywgT2N1bGFyIGNoYW5nZXMgKGRvd253YXJkIGFuZCBpbndhcmQgbGVucyBzdWJsdXhhdGlvbiksIENhcmRpb3Zhc2N1bGFyIGVmZmVjdHMgKHRocm9tYm9zaXMgYW5kIGF0aGVyb3NjbGVyb3NpcyDihpIgc3Ryb2tlIGFuZCBNSSksIGtZcGhvc2lzLCBpbnRlbGxlY3R1YWwgZGlzYWJpbGl0eS4=

Cg==

[Qq]

[q] ……. becomes an essential amino acid in patients with homocystinuria.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IEN5c3RlaW5lLg==

Cg==

Cg==[Qq]

[q] Many patients with Homocystinuria respond dramatically to ……….. supplementation, which improves residual enzymatic activity and reduces plasma homocysteine levels.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IHB5cmlkb3hpbmUgKEI2KS4=

Cg==

Cg==[Qq]

[q] If a patient is instructed to consume 3000 Cal per day, 900 (30%) of which are to be from protein. Because 1 g of protein yields 4 Cal of energy, this patient should consume (900 Cal /4 Cal) = …….. g/day of protein.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IDIyNS4=[Qq]

[q] What is the most likely diagnosis?

3 years old child presenting with hypochromic megaloblastic anemia (not responsive to treatment with vitamin B12, folic acid, or iron), neurologic abnormalities, growth retardation and excretion of high amounts of orotic acid in the urine?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IE9yb3RpYyBhY2lkdXJpYS4=

Cg==

Cg==

VGhlIGRlZmVjdGl2ZSBlbnp5bWVzIGluIG9yb3RpYyBhY2lkdXJpYSBhcmUgb3JvdGF0ZSBwaG9zcGhvcmlib3N5bCB0cmFuc2ZlcmFzZSBhbmQgT01QIGRlY2FyYm94eWxhc2UuIFRoZXNlIHR3byBlbnp5bWVzIHJlcHJlc2VudCBzZXBhcmF0ZSBhY3RpdmUgZG9tYWlucyBvbiBhIHNpbmdsZSBwb2x5cGVwdGlkZTsgdGhpcyBpcyB3aHkgYSBzaW5nbGUgbXV0YXRpb24gY2F1c2VzIGR5c2Z1bmN0aW9uIG9mIGJvdGggZW56eW1lcy4=

[Qq]

[q] What is the most likely diagnosis?

3 years old child presenting with intellectual disability, compulsive self-mutilation, aggression, hyperuricemia (orange “sand” [sodium urate crystals] in diaper), gout, dystonia?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IExlc2NoLU55aGFuIHN5bmRyb21lLsKgRGVmZWN0aXZlIHB1cmluZSBzYWx2YWdlIGR1ZSB0byBhYnNlbnQgSEdQUlQsIHdoaWNoIGNvbnZlcnRzIGh5cG94YW50aGluZSB0byBJTVAgYW5kIGd1YW5pbmUgdG8gR01QLiBYLWxpbmtlZCByZWNlc3NpdmUu

Cg==

74KnIEhHUFJUOg==
CiYjODIxMTsgSHlwZXJ1cmljZW1pYSwgR291dC4=
CiYjODIxMTsgUGlzc2VkIG9mZiAoYWdncmVzc2lvbiwgc2VsZi1tdXRpbGF0aW9uKS4=
[Qq] – Retardation (intellectual disability).
– DysTonia.

[q] …………. is a cofactor for several dehydrogenase enzyme reactions including:
o Pyruvate dehydrogenase (links glycolysis to TCA cycle).
o α-ketoglutarate dehydrogenase (TCA cycle).
o Branched-chain α-ketoacid dehydrogenase.
o Transketolase (HMP shunt).

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IHRoaWFtaW5lIHB5cm9waG9zcGhhdGUgKFRQUCku[Qq]

[q] What is the most likely diagnosis?

27 years old alcoholic patient presenting with symmetrical peripheral neuropathy, cardiomegaly, cardiomyopathy, congestive heart failure, peripheral edema, tachycardia?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IFdldCBiZXJpYmVyaS4=[Qq]

[q] What is the most likely diagnosis?

27 years old alcoholic patient presenting with confusion, ophthalmoplegia, ataxia + memory loss (permanent), confabulation, personality change + hemorrhagic necrosis of mammillary bodies?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]ICYjODIxMTsgV2Vybmlja2UtS29yc2Frb2ZmIHN5bmRyb21lIChkdWUgdG8gZGVmZWN0aXZlIGJpbmRpbmcgb2YgdHJhbnNrZXRvbGFzZSB3aXRoIHRoaWFtaW5lKS4=

Cg==

Cg==[Qq]

[q] FAD is an electron carrier in the tricarboxylic acid cycle (TCA) and serves as a cofactor for …………, which is an enzyme that mediates the conversion of succinate into fumarate.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IHN1Y2NpbmF0ZSBkZWh5ZHJvZ2VuYXNlLg==[Qq]

[q] Dermatitis, glossitis (swelling and redness of the tongue), and Cheilosis (inflammation of lips, scaling and fissures at the corners of the mouth), Corneal vascularization (new blood vessels growth in cornea that can cause vision problems) are characteristic for ………. deficiency.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IFZpdGFtaW4gQjIgKHJpYm9mbGF2aW4pLg==[Qq]

[q] Vitamin ………. is constituent of NAD, NADP (used in redox reactions), also used to treat dyslipidemia; lowers levels of VLDL and raises levels of HDL.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IFZpdGFtaW4gQjMgKE5pYWNpbiku[Qq]

[q] What is the most likely diagnosis?

30 years old patient presenting with bilateral and symmetric roughened, thickened, and scaly skin on the sun-exposed areas of the body, diarrhea, dementia?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IHBlbGxhZ3JhIGR1ZSB0byBWaXRhbWluIEIzIGRlZmljaWVuY3ku[Qq]

 

[q] What is the most likely diagnosis?

17 years old patient presenting with bilateral and symmetric roughened, thickened, and scaly skin on the sun-exposed areas of the body, diarrhea + aminoaciduria, restricted to the neutral amino acids?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IEhhcnRudXAgZGlzZWFzZS4=

Cg==

74KnIFRyZWF0bWVudCB3aXRoIG5pY290aW5pYyBhY2lkIG9yIG5pY290aW5hbWlkZSBhbmQgYSBoaWdoLXByb3RlaW4gZGlldCBnZW5lcmFsbHkgcmVzdWx0cyBpbiBzaWduaWZpY2FudCBpbXByb3ZlbWVudCBvZiBzeW1wdG9tcy4=[Qq]

[q] Vitamin …….. is converted to pyridoxal phosphate (PLP), a cofactor used in transamination (ALT and AST), decarboxylation reactions, glycogen phosphorylase. Its deficiency leads to peripheral neuropathy (deficiency inducible by isoniazid and oral contraceptives), sideroblastic anemias (due to impaired hemoglobin synthesis and iron excess).

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IEI2Lg==[Qq]

[q] ……….. is a cofactor for carboxylation enzymes (which add a 1-carbon group):
o Pyruvate carboxylase: pyruvate (3C) → oxaloacetate (4C).

o Acetyl-CoA carboxylase: acetyl-CoA (2C) → malonyl-CoA (3C).

o Propionyl-CoA carboxylase: propionyl-CoA (3C) → methylmalonyl-CoA (4C).

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IEJpb3RpbiAoVml0YW1pbiBCNyku[Qq]

[q] Excessive ingestion of raw egg whites can lead to deficiency of ………..?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IEJpb3RpbiAoZHVlIHRvIHRoZSBoaWdoIGxldmVscyBvZiBiaW90aW4tYmluZGluZyBhdmlkaW4gaW4gZWdnIHdoaXRlcyBwcmV2ZW50aW5nIGl0cyBhYnNvcnB0aW9uKS4=[Qq]

[q] What is the most likely diagnosis?

45 years old female presenting with macrocytic, megaloblastic anemia; hypersegmented polymorphonuclear cells (PMNs); glossitis + Labs show ↑ homocysteine, normal methylmalonic acid levels?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IFZpdGFtaW4gQjkgKGZvbGljIGFjaWQgZGVmaWNpZW5jeSku[Qq]

[q] What is the most likely diagnosis?

45 years old female who is strict vegetarian for years presenting with macrocytic, megaloblastic anemia; hypersegmented polymorphonuclear cells (PMNs); glossitis, paresthesias, and burning sensation of the extremities + Labs show ↑ homocysteine and methylmalonic acid levels?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IFZpdGFtaW4gQjEyIGRlZmljaWVuY3ku

Cg==

Cg==[Qq]

[q] What is the most likely diagnosis?

65 years old female who lives alone presenting with gum swelling, loosening of the teeth, and periodontal infection, bruising, petechiae, hemarthrosis, anemia, poor wound healing, perifollicular and subperiosteal hemorrhages, “corkscrew hair” + delayed wound healing and Weakened immune response?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IFZpdGFtaW4gQyBkZWZpY2llbmN5Lg==[Qq]

[q] ⊝ pregnancy test and two forms of contraception are required before ……….. is prescribed.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IGlzb3RyZXRpbm9pbiAodml0YW1pbiBBIGRlcml2YXRpdmUpLg==[Qq]

[q] What is the most likely diagnosis?

4 years old child presenting with malnutrition, swollen abdomen, fatty liver, hyperkeratosis, dyspigmentation?

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IEt3YXNoaW9ya29yLg==[Qq]

[q] ……….. inhibits alcohol dehydrogenase and is an antidote For Overdoses of Methanol or Ethylene glycol.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IEZPTUVwaXpvbGUu[Qq]

[q] ………. inhibits acetaldehyde dehydrogenase (acetaldehyde accumulates, contributing to hangover symptoms), discouraging drinking.

[c]IFNob3cgbWUgdG hlIGFuc3dlcg==[Qq]

[f]IERpc3VsZmlyYW0u[Qq]

[x][restart]

[/qwiz]