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Social outcome in adults with maple syrup urine disease (MSUD)

✍ Scribed by E. Simon; M. Schwarz; U. Wendel

Book ID: 106374173
Publisher: Springer
Year: 2007
Tongue: English
Weight: 126 KB
Volume: 30
Category: Article
ISSN: 0141-8955
DOI: 10.1007/s10545-007-0475-4

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## Abstract Maple syrup urine disease is a rare metabolic disorder caused by mutations in the branched‐chain α‐keto acid dehydrogenase complex gene. Patients generally present early in life with a toxic encephalopathy because of the accumulation of the branched‐chain amino acids leucine, isoleucine