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A 6-year-old girl with a history of seizures presents with hepatomegaly. She appears small for her age and seems to have normal mental function. Laboratory tests reveal a fasting serum glucose of 35 mg/dL and a serum uric acid of 15 mg/dL. The patient most likely has a genetic defect causing a deficiency in which of the following enzymes?
A. Adenosine deaminase
B. Glucose-6-phosphatase
C. Hypoxanthine-guanine phosphoribosyltransferase (HGPRT)
D. Phenylalanine hydroxylase
E. Xanthine oxidase
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arya,pt.is female and mental function is normal.so,it can`t be HGPRT..
It must be von gierke.My ans.--B.
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Thanks savi. I agree with you.
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Yes, Von Gierke's disease:
1. hepatomegaly
2. fasting hypoglycemia
3. gout: excessvie glucose-6-phosphate (due to deficiency of glucose-6 phosphatase) forms excessive phosphoribosyl-pyrophosphate--uric acid increaes.
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Very good folks, you have the right answer is Von Gierke disease.
Arya I appreciated your explanation for uric acid elevation.
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I checked my FA and the explanation was written there. I think I met a Q asking for that. Good Q Saton. Thank you.
