Disease Information for Maple syrup urine disease

An autosomal recessive inherited disorder with multiple forms of phenotypic expression, caused by a defect in the oxidative decarboxylation of branched-chain ammino acids (AMINO ACIDS, BRANCHED-CHAIN); These metabolites accumulate in body fluids and render a "maple syrup" odor; The disease is divided into classic, intermediate, intermittent, and thiamine responsive subtypes; The classic form presents in the first week of life with ketoacidosis, hypoglycemia, emesis, neonatal seizures, and hypertonia; The intermediate and intermittent forms present in childhood or later with acute episodes of ataxia and vomiting; (From Adams et al, Principles of Neurology)

Maple Syrup Urine Disease; BCKD Deficiency; Branched Chain Alpha-Ketoacid Dehydrogenase Deficiency; Branched Chain Ketonuria I; Classical Maple Syrup Urine Disease; MSUD; ; variants subtypes: Classic Maple Syrup Urine Disease;Intermediate Maple Syrup Urine Disease; Intermittent Maple Syrup Urine Disease; Thiamine-Responsive Maple Syrup Urine Disease; Maple Syrup Urine Disease (MSUD) is an extremely rare inherited metabolic disorder characterized by a distinctive sweet odor of the urine and sweat; It is a serious disorder that, unless treated promptly and correctly, can be life threatening; Therapy must be started at the earliest possible age to achieve the best results. MSUD is manageable, just as diabetes is manageable, but care and attention must be given to diet and to the treatment of even minor illnesses; Symptoms develop because the body is unable to break down (metabolize) three of the essential amino acids, leucine, isoleucine, and valine; They are essential because they are used by the body to build proteins, and they are three of 11 amino acids that must be obtained as part of the daily diet since the body cannot synthesize them; These three amino acids are branched chain amino acids (BCAAs); An affected newborn will present with abnormally high concentrations of acidic metabolic by-products of the BCAAs in the blood and other tissues (metabolic acidosis) that, if left untreated, may lead to seizures or coma, and may be life-threatening; Genetically, there appear to be three forms of the disorder: IA, IB, and II; Clinically, at least four forms are described, to which some clinicians add a fifth; [NORD]

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