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maple syrup urine disease

   Also found in: Dictionary/thesaurus, Medical, Legal, Acronyms, Wikipedia, Hutchinson 0.01 sec.
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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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.
 
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