Case study- Hypoglycemia and Hepatomegaly


A female infant appeared normal at birth but developed signs of liver disease and muscular weakness at 3 months. She had periods of hypoglycemia, particularly on awakening. Examination revealed an enlarged liver. Laboratory analyses following fasting revealed ketoacidosis, blood pH 7.25, and elevations in both alanine transaminase (ALT) and aspartate transaminase (AST). Administration of glucagon following a carbohydrate meal elicited a normal rise in blood glucose, but glucose levels did not rise when glucagon was administered following an overnight fast. Liver biopsy revealed an increase in the glycogen content (6 percent of wet weight). In which of the following enzymes is a genetic deficiency most likely for this patient?

A. Branching enzyme

B. Debranching enzyme

C. Glucose-6-phosphatase

D. Glycogen synthase

E. Muscle phosphorylase

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1 Response

  1. Its glucose 6 phosphatase enzyme deficiency

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