maple syrup urine disease


Also found in: Dictionary, Thesaurus, Medical, Legal, Acronyms, Wikipedia.
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.
Mentioned in ?
References in periodicals archive ?
Significance of L-alloisoleucine in plasma for diagnosis of maple syrup urine disease.
Second-tier test for quantification of alloisoleucine and branched-chain amino acids in dried blood spots to improve newborn screening for maple syrup urine disease (MSUD)
Variant maple syrup urine disease in mother and daughter.
Significance of L-alloisoleucine in plasma for diagnosis of maple syrup urine disease
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).
New England Newborn Screening Program Launches Supplemental Newborn Screening in Pennsylvania
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).
Children's Hospital of Pittsburgh Developing Liver Transplantation as a Potential Cure for Life-Threatening Metabolic Disease; Children's performs one of world's few transplants with first-of-its kind protocol
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.
During National Birth Defects Prevention Month, March of Dimes Adds New Test To List of Essential Newborn Screening Tests

Encyclopedia browser ?
Full browser ?