maple syrup urine disease


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Related to maple syrup urine disease: maple syrup diet

maple syrup urine disease

[′mā·pəl ¦sir·əp ′yu̇r·ən di‚zēz]
(medicine)
A hereditary metabolic disorder caused by deficiency of branched-chain keto acid decarboxylase; characterized by the maple-syrup-like odor of urine. Also known as branched-chain ketoaciduria.
References in periodicals archive ?
Variant maple syrup urine disease in mother and daughter.
Maple Syrup Urine Disease (MSUD) - the baby's body cannot break down several amino acids; when untreated, leads to seizures, mental retardation or death (treatable with diet).
PITTSBURGH, July 20 /PRNewswire/ -- Children's Hospital of Pittsburgh has become the first transplant center in the world to develop a comprehensive, multidisciplinary medical protocol for performing liver transplants in patients with Maple Syrup Urine Disease (MSUD).
Along with MCAD testing, the March of Dimes' recommended newborn screening test list includes: phenylketonuria (PKU), congenital hypothyroidism, galactosemia, sickle cell anemia, congenital adrenal hyperplasia (CAH), biotinidase deficiency, maple syrup urine disease, homocystinuria and a hearing test.