maple syrup urine disease

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Related to maple syrup urine: alkaptonuria, homocystinuria, MSUD

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 ?
Dysmyelination in the brain of adolescents and young adults with maple syrup urine disease.
Dual mechanism of brain injury and novel treatment strategy in maple syrup urine disease.
Maple syrup urine disease: branched-chain ketoaciduria.
A new protein substitute for adolescent and adults with maple syrup urine disease (MSUD).
Maple syrup urine disease: therapeutic use of insulin in catabolic states.
Four novel mutations identified in Norwegian patients result in intermittent maple syrup urine disease when combined with the R301C mutation.
Parenteral nutrition in treatment of metabolic decompensation in maple syrup urine disease.
In maple syrup urine disease (MSUD; McKusik 248600), the degradation of the essential branched-chain L-amino acids leucine, valine, and isoleucine and their derived 2-oxoacids is impaired because of an inherited deficiency in branched-chain 2-oxoacid dehydrogenase complex (EC 1.
The other tests that make up the March of Dimes recommended core list are: phenylketonuria (PKU); congenital hypothyroidism; congenital adrenal hyperplaisa (CAH); galactosemia, biotinidase deficiency; maple syrup urine disease; sickle cell anemia; and hearing screening.
But the new scheme will check the same blood sample for five extra conditions: maple syrup urine disease, homocystinuria and three types of acidaemia.
Soon after Guthrie (1) expanded newborn screening by adding galactosemia, maple syrup urine disease (MSUD), and homocystinuria to the original screening for phenylketonuria (PKU), he realized that screening would be more efficient and comprehensive if a single assay could be used to detect several disorders rather than the system of a separate bacterial assay for each disorder that he had developed.