A four-year-old child with exercise intolerance. On investigation Blood pH 7.3, FBS 60 mg%, hypertriglyceridemia, ketosis and lactic acidosis. The child had hepatomegaly and renomegaly. Biopsy of liver and kidney showed increased glycogen content. What is the diagnosis?
Correct Answer: Von Gierke's disease
Description: Ans. C. Von Gierke's Disease(Ref: Nelson 20/e page 715, Defects in metabolism of Carbohydrates)Clinical Picture of Von Gierke's Disaese Clinical presentationMost commonly present at 3-4 months of ageDoll like facies with fat cheeksRelatively thin extremitiesShort stature, Protuberant abdomenMassive HepatomegalyKidneys are also enlargedNo SplenomegalyPlasma may be milky due to associated hypertriglyceridemia
Category:
Biochemistry
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