Glycogen Storage Diseases

Glycogen is the principal storage form of carbohydrate in animal cells and is present virtually in every tissue of the body. Glycogen storage diseases (GSDs) (glycogenoses) are inborn metabolic disorders characterized by defects in enzymes or transport proteins that affect glycogen metabolism. The glycogen found in these disorders is abnormal in quantity, quality, or both. At present, more than 12 recognized glycogenoses are categorized either numerically in chronological accordance with their discovery or by organ involvement/clinical manifestations (liver or muscle). Hepatic GSDs include types I, III, IV, VI, IX, and XI. Muscle GSDs include types II, III, V, VII, and IX.

Duke Scholars

Author Priya Sunil Kishnani Pediatrics, Medical Genetics