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Ann Neurol. 1999 Dec;46(6):925-8.

Leukoencephalopathy associated with a disturbance in the metabolism of polyols.

Author information

  • 1Department of Child Neurology, Free University Hospital, Amsterdam, The Netherlands.

Abstract

In vivo proton magnetic resonance spectroscopy of the brain demonstrated highly elevated levels of arabitol and ribitol in a 14-year-old boy with a white matter disorder and neuropathy of unknown origin. These polyols also were shown to be elevated in body fluids, suggesting an inborn error in polyol metabolism. The strong plasma/ cerebrospinal fluid/brain gradient, with concentrations increasing in that order, suggests a primary neurometabolic disorder. Thus far, a basic enzyme defect has not been identified.

PMID:
10589548
[PubMed - indexed for MEDLINE]
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