maple syrup urine disease

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Related to maple syrup urine disease: maple syrup diet
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Noun1.maple syrup urine disease - an inherited disorder of metabolism in which the urine has a odor characteristic of maple syrup; if untreated it can lead to mental retardation and death in early childhood
acetonuria, ketoaciduria, ketonuria - excessive amounts of ketone bodies in the urine as in diabetes mellitus or starvation
References in periodicals archive ?
The urine of these infants had an odor resembling maple syrup (burned sugar), hence, maple sugar urine disease and, later, maple syrup urine disease.
D-Alloisoleucine (allo-Ile) (6) is a pathognomonic marker for maple syrup urine disease (MSUD; OMIM 248600), an autosomal recessively inherited deficiency of the branched-chain ketoacid dehydrogenase complex (BCKDH; EC 1.
In addition to screening and treating Amish children for glutaric aciduria, it treats Mennonite children who are susceptible to maple syrup urine disease, another genetic disorder that is detectable in newborns and that, without proper treatment, can be fatal whithin the first 48 hours of life.
The State of Pennsylvania mandates that hospitals select an approved provider to screen all babies born in the state for six conditions, including phenylketonuria (PKU), primary congenital hypothyroidism (CH), hemoglobinopathies, maple syrup urine disease (MSUD), congenital adrenal hyperplasia (CAH) and galactosemia.
The NHS Newborn Blood Spot Screening programme will be expanded to screen for homocystinuria (HCU), maple syrup urine disease (MSUD), glutaric aciduria type 1 (GA1) and isovaleric acidaemia (IVA).