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A 2-month-old child is evaluated for failure to thrive. As the pediatrician is examining the child, a convulsion occurs. Stat serum chemistries demonstrate severe hypoglycemia, hyperlipidemia, lactic acidosis, and ketosis. Physical examination is remarkable for hepatomegaly, a finding confirmed by CT scan, which also reveals renomegaly. Which of the following diseases best accounts for this presentation?
A. Gaucher's disease
B. McArdle's disease
C. Niemann-Pick disease
D. Pompe's disease
E. Von Gierke's disease
 

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This is classic presentation of Glycogen Storage Disease type-1 due to deficiency of Glucose-6-phosphatase. This enzyme is involved in the final step of gluconeogenesis in the liver (also in kidney) by converting G-6-P to glucose. It will cause hypoglycemia. Accumulation of G-6-P inside cells will cause organomegaly in organs involved in gluconeogenesis (hepatomegaly and renomegaly).

The answer is : E. Von Gierke's Disease
 
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