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MALADIE URINES ODEUR SIROP ERABLE [1 record]

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Record 1 2002-10-10

English

Subject field(s)
  • Endocrine System and Metabolism
CONT

Maple syrup urine disease (MSUD). This disorder, also called branched-chain a-ketoaciduria, derives its name from the burnt-sugar smell of affected infants. MSUD is caused by impaired branched chain a-ketoacid dehydrogenase, which catalyzes decarboxylation of the a-ketoacid derivatives of all three of these amino acids.

French

Domaine(s)
  • Systèmes endocrinien et métabolique
DEF

Maladie héréditaire à transmission autosomique récessive, liée à un déficit de l'enzyme catalysant la décarboxylation oxydative des cétoacides dérivant des acides ramifiés (leucine, isoleucine et valine).

Spanish

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