Maple Syrup Urine Disease Support Group

Maple syrup urine disease (MSUD) is an inherited metabolic disorder due to a deficiency of decarboxylase enzyme that leads to elevated concentrations of leucine, isoleucine, and valine (branched amino acids) in the blood and urine. Characterized by the urine having an odor similar to that of maple syrup. This results in severe mental retardation, and seizures. Also called branched chain ketoaciduria.

Treatment of the MSUD, like diabetes, requires careful monitoring of blood chemistry and involves both special diet and frequent testing. A diet with minimal levels of the amino acids leucine, isoleucine, and valine must be maintained in order to prevent neurological damage. Usually, patients, or parents of patients are assisted by a physician or dietician. This diet must be adhered to strictly and permanently. However, with proper treatment those aflicted are able to live healthy, normal lives and not suffer the severe neurological damage that characterizes the untreated disease.