Definition - one of a group of muscle diseases that interfere with the processing of carbohydrates for energy production.

Cause - a genetic defect in the debrancher enzyme, which interferes with the breakdown of glycogen (stored sugar)  in the muscles and liver

Onset - infancy to 50s

Symptoms - weakness, exercise intolerance in adult-onset form; low blood sugar, seizures, enlarged heart and liver, death in childhood common in infantile-onset form; weakness, enlarged liver, growth retardation, low blood sugar, sometimes seizures in childhood-onset form

Progression - slowly progressive

Inheritance - autosomal recessive, meaning caused by the contribution of a defective gene from each parent

Facts About Metabolic Diseases