Von Gierke’s disease is characterized by deficiency of?
Correct Answer: Glucose 6-Phosphatase
Description: 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 GSD I: type Ia, in which the glucose-6-phosphatase enzyme is defective, and type Ib, in which the translocase that transpos 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. Ref: Kishnani P.S., Chen Y. (2012). Chapter 362. Glycogen Storage Diseases and Other Inherited Disorders of Carbohydrate Metabolism. In D.L. Longo, A.S. Fauci, D.L. Kasper, S.L. Hauser, J.L. Jameson, J. Loscalzo (Eds), Harrison's Principles of Internal Medicine, 18e.
Category:
Biochemistry
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