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Neuropsychometric outcome predictors for adults with maple syrup urine disease

✍ Scribed by C. le Roux; E. Murphy; P. Hallam; M. Lilburn; D. Orlowska; P. Lee


Book ID
106374032
Publisher
Springer
Year
2006
Tongue
English
Weight
171 KB
Volume
29
Category
Article
ISSN
0141-8955

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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