Maple syrup urine disease (MSUD)

Maple syrup urine disease (MSUD)
Hereditary disease due to deficiency of an enzyme involved in amino acid metabolism, characterized by urine that smells like maple syrup.

Medical dictionary. 2011.

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  • maple syrup urine disease — ma·ple syr·up urine disease mā pəl sər əp , sir əp n a hereditary aminoaciduria caused by a deficiency of decarboxylase leading to high concentrations of valine, leucine, isoleucine, and alloisoleucine in the blood, urine, and cerebrospinal fluid …   Medical dictionary

  • MSUD — maple syrup urine disease * * * maple syrup urine disease …   Medical dictionary

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  • MSUD — biomed. abbr. Maple Syrup Urine Disease …   United dictionary of abbreviations and acronyms

  • metabolic disease — ▪ pathology Introduction       any of the diseases or disorders that disrupt normal metabolism, the process of converting food to energy on a cellular (cell) level. Thousands of enzymes participating in numerous interdependent metabolic pathways… …   Universalium

  • BCKDHB — Branched chain keto acid dehydrogenase E1, beta polypeptide (maple syrup urine disease), also known as BCKDHB, is a human gene.cite web | title = Entrez Gene: BCKDHB branched chain keto acid dehydrogenase E1, beta polypeptide (maple syrup urine… …   Wikipedia

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