[From gene to disease; X-linked adrenoleukodystrophy].
X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder, characterized by impaired peroxisomal beta-oxidation, subsequent accumulation of very long-chain fatty acids (> 22 carbon atoms), and mutations in the ABCD1 gene. Clinical manifestations, diagnostic procedures and treatment options are discussed.
Engelen
M
M
Academisch Medisch Centrum/Universiteit van Amsterdam, Afd. Neurologie, Amsterdam.
Kemp
S
S
van Geel
B M
BM
D000326:Adrenoleukodystrophy / Q000235:genetics* / Q000378:metabolism*; D005227:Fatty Acids / Q000378:metabolism*; D040181:Genetic Diseases, X-Linked; D006801:Humans; D015227:Lipid Peroxidation / Q000235:genetics*; D010084:Oxidation-Reduction; D020675:Peroxisomes / Q000378:metabolism
D005227:Fatty Acids