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What is An infant presents with hepatosplenomegaly, hypoglycemia, hyperuricemia and lactic acidosis. Liver biopsy shows normal structured glycogen deposition. Enzyme deficient in this infant is ? and explain in detail?
Ans. is 'c' i.e., Glucose-6-phosphataseThe infant is presenting with features of liver glycogenosis, i.e. glycogen storage disease which primarily affects liver.Among the given options a, b and c are liver glycogenoses. but normal glycogen structure rules out a and b options.Debranching enzyme deficiency (Type III glycogenosis) and branching enzyme deficiency (type IV glycogenosis) have depostion of abnormal glycogen.Glucose-6-phosphatase deficiency (type I glycogenosis) has deposition of normal glycogen.