title: Leukoencephalopathy associated with a disturbance in the metabolism of polyols.
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.
authors.affiliation: Department of Child Neurology, Free University Hospital, Amsterdam, The Netherlands.
authors.forename: M S
authors.initials: MS
authors.lastname: van der Knaap
authors.forename: R A
authors.initials: RA
authors.lastname: Wevers
authors.forename: E A
authors.initials: EA
authors.lastname: Struys
authors.forename: N M
authors.initials: NM
authors.lastname: Verhoeven
authors.forename: P J
authors.initials: PJ
authors.lastname: Pouwels
authors.forename: U F
authors.initials: UF
authors.lastname: Engelke
authors.forename: W
authors.initials: W
authors.lastname: Feikema
authors.forename: J
authors.initials: J
authors.lastname: Valk
authors.forename: C
authors.initials: C
authors.lastname: Jakobs
mesh_terms: D000293:Adolescent; D001224:Aspartic Acid / Q000031:analogs & derivatives / Q000378:metabolism; D002239:Carbohydrate Metabolism, Inborn Errors / Q000378:metabolism* / Q000473:pathology; D002794:Choline / Q000378:metabolism; D003401:Creatine / Q000378:metabolism; D003711:Demyelinating Diseases / Q000209:etiology / Q000378:metabolism* / Q000473:pathology*; D006801:Humans; D007294:Inositol / Q000378:metabolism; D008279:Magnetic Resonance Imaging; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D010296:Parietal Lobe / Q000378:metabolism* / Q000473:pathology; D012255:Ribitol / Q000378:metabolism*; D013402:Sugar Alcohols / Q000378:metabolism*
chemical_list: D013402:Sugar Alcohols; D001224:Aspartic Acid; D012255:Ribitol; D007294:Inositol; C000179:N-acetylaspartate; D003401:Creatine; D002794:Choline; C014999:arabitol