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.
MeSH terms
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Adolescent
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Aspartic Acid / analogs & derivatives
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Aspartic Acid / metabolism
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Carbohydrate Metabolism, Inborn Errors / metabolism*
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Carbohydrate Metabolism, Inborn Errors / pathology
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Choline / metabolism
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Creatine / metabolism
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Demyelinating Diseases / etiology
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Demyelinating Diseases / metabolism*
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Demyelinating Diseases / pathology*
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Humans
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Inositol / metabolism
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Magnetic Resonance Imaging
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Magnetic Resonance Spectroscopy
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Male
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Parietal Lobe / metabolism*
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Parietal Lobe / pathology
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Ribitol / metabolism*
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Sugar Alcohols / metabolism*
Substances
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Sugar Alcohols
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Aspartic Acid
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Ribitol
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Inositol
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N-acetylaspartate
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Creatine
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Choline
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arabitol