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?
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
McCardle's disease
Cori's disease
Von Gierke's disease
Pompe's disease
Carbohydrates