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 ?
Elective liver transplantation for the treatment of classical maple syrup urine disease.
Nutrition management guideline for maple syrup urine disease: an evidence-and consensus-based approach.
Dual mechanism of brain injury and novel treatment strategy in maple syrup urine disease.
White, "Disorders of amino acid metabolism, organic acidaemias and urea cycle defects; Maple syrup urine disease," in Clinical Paediatric Dietetics, V.
Erez et al., "Phenylbutyrate therapy for maple syrup urine disease," Human Molecular Genetics, vol.
A new protein substitute for adolescent and adults with maple syrup urine disease (MSUD).
[Mid-term outcome of 2 cases with maple syrup urine disease: role of liver transplantation in the treatment].
Fanconi-Bickel-like syndrome associated to maple syrup urine disease
Although MR imaging findings of bilateral involvement of the dentate nuclei are a very characteristic feature of MIE, the differential diagnosis of T2 hyperintense lesions of the bilateral cerebellar dentate nuclei in patients with symptoms of acute encephalopathy includes methyl bromide intoxication,6 maple syrup urine disease7 and enteroviral encephalomyelitis.8
Two tenders for the supply of (a) baby milk for babies infected with MSUD (maple syrup urine disease), also (b) some raw materials for the tailoring workshop.
The urine of these infants had an odor resembling maple syrup (burned sugar), hence, maple sugar urine disease and, later, maple syrup urine disease.
Individuals with Phenylketonuria (PKU), Maple Syrup Urine Disease (MSUD), Tyrosinemia, Urea Cycle Disorders and Homocystinuria, which all require low-protein diets, are aware of this, and have been forced to endure medicinal tasting meals.