Leukoencephalopathy associated with a disturbance in the metabolism of polyols

M.S. van der Knaap, R.A. Wevers, E.A. Struys, N.M. Verhoeven, P.J.W. Pouwels, U.F.H. Engelke, W. Feikema, J. Valk, C.A.J.M. Jakobs

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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.

Original languageEnglish
Pages (from-to)925-928
Number of pages4
JournalAnnals of neurology
Issue number6
Publication statusPublished - 17 Dec 1999

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