Adrenoleukodystrophy: manifestations of a protean disorder: report of a recently identified kindred.
Adrenoleukodystrophy is an inherited metabolic disorder resulting in accumulation of fatty acids in body tissues, principally the central nervous system. We report a recently identified kindred with this disease to highlight the varied clinical manifestations and recent advances in diagnosis and treatment.
Chancellor
A M
AM
Department of Neurology, Auckland Hospital.
Glasgow
G L
GL
Lambie
N K
NK
Synek
B J
BJ
D000302:Adrenal Cortex / Q000473:pathology; D000326:Adrenoleukodystrophy / Q000175:diagnosis / Q000178:diet therapy / Q000235:genetics*; D000328:Adult; D001921:Brain / Q000000981:diagnostic imaging; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000235:genetics*; D005227:Fatty Acids / Q000378:metabolism; D008040:Genetic Linkage; D006579:Heterozygote; D006801:Humans; D008297:Male; D008854:Microscopy, Electron; D010375:Pedigree; D014057:Tomography, X-Ray Computed; D014960:X Chromosome
D005227:Fatty Acids