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

Cause - a genetic defect in the lactate dehydogenase enzyme , which normally converts pyruvate to lactate and vice versa to recycle the byproducts of carbohydrate metabolism

Onset - early adulthood

Symptoms - exercise intolerance, episodes of myoglobinuria (rust-colored urine indicating breakdown of muscle tissue); a skin rash is common

Progression - not progressive

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

Facts About Metabolic Diseases of Muscle