Case study- Hypoglycemia and Hepatomegaly

QUESTION OF THE DAY

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

For answer follow the link

http://usmle.biochemistryformedics.com/answer-case-study-hypoglycemia-and-hepatomegaly/

Please help Biochemistry for Medics by "CLICKING ON THE ADVERTISEMENTS" every time you visit us. Thank you!

1 Response

  1. Its glucose 6 phosphatase enzyme deficiency

Leave a Reply

Copy Protected by Chetan's WP-Copyprotect.