maple syrup urine disease

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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.

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References in periodicals archive ?

Dual mechanism of brain injury and novel treatment strategy in maple syrup urine disease.

Cerebral edema in maple syrup urine disease despite newborn screening diagnosis and early initiation of treatment.

MRI and clinical features of maple syrup urine disease: preliminary results in 10 cases

Molecular genetics of maple syrup urine disease in the Turkish population.

Rapid diagnosis of maple syrup urine disease in blood spots from newborns by tandem mass spectrometry.

Newborn screening for maple syrup urine disease (branched-chain ketoaciduria).

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)

Glutamate and gamma-aminobutyric acid neuro-transmitter systems in the acute phase of maple syrup urine disease and citrullinemia encephalopathies in newborn calves.

Nutrient intakes of adolescents with phenylketonuria and infants and children with maple syrup urine disease on semisynthetic diets.

Maple Syrup Disease: A Standard of Nursing Care

Maple syrup urine disease prevents the digestion of some proteins, and is found in one in 120,000 births.

STUDY SCREENS 75,000 BABIES; Newborns to be tested for rare disorders

Guthrie's work in the field of mental retardation led him to develop tests for galactosemia, maple syrup urine disease (MSUD), and homocystinuria.

Testing for Disorders at Birth

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.

Significance of L-alloisoleucine in plasma for diagnosis of maple syrup urine disease

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.