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ques16

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drpkaur
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09/12/06 - 09:39 PM

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

Leopard
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09/12/06 - 09:54 PM

Glucose 6 phosphatase deficiency = Von Gierke = Type I Gycogenosis

Best of luck

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MRMAVERICK
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09/13/06 - 12:54 AM

YUP ITS B

MRMAVERICK
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09/13/06 - 12:55 AM

AND BEST OF LUCK TO U TOO LEOPARD

eytanraz
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Topics: 1
Posts: 68

09/13/06 - 01:03 AM

hints: hepatomegalia, growth retardation, hypoglicemia, hyperuricemia.

are Seizures caused by hypoglycemia?

Why in von gierke is there hyperuricemia?

drpkaur
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09/13/06 - 08:58 AM

correct guys it's von-gierke's...
well for EYTAN-go to purine and pyrimidine metabolism in kaplan biochem notes at the end of this chapter they have explained hyperuricemia and gout...nicely given....hope it helps,

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