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?: (A) McCardle's disease, (B) Cori's disease, (C) Von Gierke's disease, (D) Pompe's disease
Answer is C. 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