[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] 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

[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==

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

[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==

RGVmaWNpZW50IGVuenltZTogSGVYb3NhbWluaWRhc2UgQSAo4oCcVEF5LVNhWOKAnSku

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==

RGVmaWNpZW50IGVuenltZTogU3BoaW5nb215ZWxpbmFzZS4=

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=

RGVmaWNpZW50IGVuenltZTogR2x1Y29jZXJlYnJvc2lkYXNlLg==

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

RGVmaWNpZW50IGVuenltZTogQXJ5bHN1bGZhdGFzZSBBLg==

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==

RGVmaWNpZW50IGVuenltZTogzrEtZ2FsYWN0b3NpZGFzZSBBLg==

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==

RGVmaWNpZW50IGVuenltZTogR2FsYWN0b2NlcmVicm9zaWRhc2Uu

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=

RGVmaWNpZW50IGVuenltZTogSWR1cm9uYXRlLTItc3VsZmF0YXNlLg==

Accumulated substrate: Heparan sulfate, dermatan sulfate.

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

[x][restart]

[/qwiz]