Leukoencephalopathy associated with a disturbance in the metabolism of polyols.
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.
van der Knaap
M S
MS
Department of Child Neurology, Free University Hospital, Amsterdam, The Netherlands.
Wevers
R A
RA
Struys
E A
EA
Verhoeven
N M
NM
Pouwels
P J
PJ
Engelke
U F
UF
Feikema
W
W
Valk
J
J
Jakobs
C
C
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*
D013402:Sugar Alcohols; D001224:Aspartic Acid; D012255:Ribitol; D007294:Inositol; C000179:N-acetylaspartate; D003401:Creatine; D002794:Choline; C014999:arabitol