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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. How to thank TFD for its existence? Tell a friend about us, add a link to this page, add the site to iGoogle, or visit webmaster's page for free fun content. |
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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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