Which of the following is not seen in Von-gierke’s disease?
Correct Answer: Hyperuricemia is not seen
Description: Ans. is 'd' i.e., Hyperuricemia is not seen Type I glycogen storage disease (glucose-6-phosphatase or translocase deficiency, von Gierke's disease)* Type I glycogen storage disease is an autosomal recessive disorder caused by glucose-6-phosphatase deficiency in liver, kidney, and intestinal mucosa.* There are two subtypes of GSDI: type la, in which the glucose-6-phosphatase enzyme is defective, and type Ib, in which the translocase that transports glucose-6-phosphate across the microsomal membrane is defective.* The defects in both subtypes lead to inadequate conversion in the liver of glucose-6- phosphate to glucose and thus make affected individuals susceptible to fasting hypoglycemia.Clinical and laboratory findings* Persons with type I disease may develop hypoglycemia and lactic acidosis during the neonatal period; however, more commonly, they exhibit hepatomegaly at 3-4 months of age.* These children usually have doll-like faces with fat cheeks, relatively thin extremities, short stature, and a protuberant abdomen that is due to massive hepatomegaly. The kidneys are enlarged, but the spleen and heart are of normal size. The hepatocytes are dis- tended by glycogen and fat with large and prominent lipid vacuoles. Despite hepatomegaly, liver enzymes are usually normal or near normal.* Easy bruising and epistaxis are associated with a prolonged bleeding time as a result of impaired platelet aggregation/adhesion.* Hyperuricemia is present.* Hyperlipidemia includes elevation of triglycerides, cholesterol, and phospholipids.* Type Ib patients have additional findings of neutropenia and impaired neutrophil function, resulting in recurrent bacterial infections and oral and intestinal mucosal ulceration.* GSD I patients may experience intermittent diarrhea, which can worsen with age. In GSD lb, it is largely due to loss of mucosal barrier function caused by inflammation.
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