PYGM catalyzes and regulates the breakdown of glycogen to glucose-1-phosphate. Defects in PYGM are the cause of glycogen storage disease type 5 (GSD5), also known as McArdle disease. GSD5 is a metabolic disorder resulting in myopathy characterized by exercise intolerance, cramps, muscle weakness and recurrent myoglobinuria.
Intended for research use only. Not for use in human, therapeutic, or diagnostic applications.