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Cerebral edema and intracranial hypertension in an adult with maple syrup urine disease

✍ Scribed by R. Sutter; H. E. Killer; S. Bilz; M. Baumgartner; H. W. Ott; A. J. Steck; S. Renaud

Book ID
111065766
Publisher
John Wiley and Sons
Year
2009
Tongue
English
Weight
165 KB
Volume
16
Category
Article
ISSN
1351-5101

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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