Leukoencephalopathy associated with a disturbance in the metabolism of polyols
- 1 December 1999
- journal article
- case report
- Published by Wiley in Annals of Neurology
- Vol. 46 (6) , 925-928
- https://doi.org/10.1002/1531-8249(199912)46:6<925::aid-ana18>3.0.co;2-j
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.Keywords
This publication has 18 references indexed in Scilit:
- Concurrent Validity of the Snijders-Oomen Nonverbal Intelligence Test 2 1/2–7–Revised with the Wechsler Preschool and Primary Scale of Intelligence–RevisedPsychological Reports, 1998
- Polyol profiles in Down syndrome. myo-Inositol, specifically, is elevated in the cerebrospinal fluid.Journal of Clinical Investigation, 1995
- The role of polyols in the pathophysiology of hypergalactosemiaEuropean Journal of Pediatrics, 1995
- Capillary Gas Chromatography Combined with Ion Trap Detection for Quantitative Profiling of Polyols in Cerebrospinal Fluid and PlasmaAnalytical Biochemistry, 1995
- Subclinical hepatic encephalopathy: proton MR spectroscopic abnormalities.Radiology, 1994
- Estimation of metabolite concentrations from localized in vivo proton NMR spectraMagnetic Resonance in Medicine, 1993
- Arabinitol enantiomers in cerebrospinal fluidJournal of the Neurological Sciences, 1991
- Quantitative analysis of polyols in human plasma and cerebrospinal fluidJournal of Chromatography B: Biomedical Sciences and Applications, 1989
- Capillary gas chromatographic profiling of urinary, plasma and erythrocyte sugars and polyols as their trimethylsilyl derivatives, preceded by a simple and rapid prepurification methodClinica Chimica Acta; International Journal of Clinical Chemistry, 1986
- A NADH-dependent transketolase assay in erythrocyte hemolysatesClinica Chimica Acta; International Journal of Clinical Chemistry, 1971