This disease is a metabolic muscle disorder, a group of diseases that interferes with the processing of food (in this case, carbohydrates) for energy production.
Lactate dehydrogenase deficiency results in exercise intolerance and episodes of myoglobinuria (acute muscle breakdown leading to rust-colored urine). A skin rash is common, probably because skin cells need lactate dehydrogenase.
The disease is caused by a genetic defect in the lactate dehydrogenase enzyme, which normally recycles byproducts of carbohydrate metabolism. For more, see Causes/Inheritance .
The condition has its onset in early adulthood and does not progress.
Researchers on metabolic diseases of muscle are making progress on a number of fronts, including: