| Autor: |
Knaap, M. S. Van Der, Wevers, R. A., Struys, E. A., Verhoeven, N. M., Pouwels, P. J. W., Engelke, U. F. H., Feikema, W., Valk, J., Jakobs, C. |
| Zdroj: |
Annals of Neurology; December 1999, Vol. 46 Issue: 6 p925-928, 4p |
| Abstrakt: |
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. |
| Databáze: |
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