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. Jakobs

Research output: Contribution to journalArticleAcademicpeer-review

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.

Original languageEnglish
Pages (from-to)925-928
Number of pages4
JournalAnnals of Neurology
Volume46
Issue number6
DOIs
Publication statusPublished - 17 Dec 1999

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