A 3-month-old infant presents with hepatosplenomegaly and failure to thrive. A liver biopsy reveals glycogen with an abnormal, amylopectin like structure with long outer chains and missing branches. Which of the following enzymes would most likely be deficient:
Correct Answer: Branching enzyme
Description: Disease is Anderson's disease/Amylopectinosis (GSD Type IV) Branching enzyme will be deficient Enzyme deficient Disease Features Branching enzyme Amylopectinosis Stored glycogen is abnormal long polysaccharide chains with few branch points resembles - Amylopectin Debranching enzyme Limit dextrinosis Limit dextrins (glycogen remains having shoer linear chains with very sho branch point)-accumulated Glucose-6-phosphatase Von-Gierke's disease Stored glycogen-Normal
Category:
Biochemistry
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