PYGM : glycogen phosphorylase, muscle associated

Description

The PYGM gene provides instructions for making an enzyme called glycogen phosphorylase, a critical component of glycogen metabolism. Glycogen is a complex carbohydrate that serves as a readily available source of glucose, our body‘s primary energy source. Glycogen phosphorylase breaks down glycogen into glucose-1-phosphate, which can then be converted to glucose. This enzyme is particularly important in muscle cells, where it allows for rapid energy production during physical activity. The PYGM gene‘s role in glycogen metabolism highlights its importance for maintaining energy levels, especially in muscle tissue.

Associated Diseases

• McArdle‘s Disease (Glycogen Storage Disease Type V): A genetic condition caused by mutations in the PYGM gene, leading to a deficiency in muscle glycogen phosphorylase. This results in muscle weakness, fatigue, and cramps, particularly during exercise.
• Other Muscle Disorders: Mutations in the PYGM gene can also contribute to other muscle disorders, including exercise-induced muscle cramps and myopathies characterized by muscle weakness and pain.

Did you know?

McArdle‘s Disease, caused by mutations in the PYGM gene, is named after Dr. Brian McArdle, who first described the condition in 1951.