glycogen storage disease
Definition
A group of inherited metabolic disorders characterized by abnormal storage of glycogen in various tissues, particularly the liver and muscles
Clinical context
A 10-year-old boy presents with hepatomegaly and muscle weakness. Laboratory studies show elevated liver enzymes and abnormal glycogen metabolism. His condition is diagnosed as glycogen storage disease Type I. A similar case presents with exercise intolerance and muscle cramps, indicating Type II glycogen storage disease.
Mnemonic
Glycogen storage disease = 'Glycogen' + 'Storage' + 'Disease' = Remember that glycogen is stored in liver and muscle tissues, and the name itself tells you what's happening - glycogen is being stored abnormally.