X-linked adrenoleukodystrophy: biochemical diagnosis and enzyme defect.
The adrenoleukodystrophies refer to three genetically distinct disorders all characterized by the accumulation of very long-chain fatty acids. In this paper we will review the biochemical aspects of these leukodystrophies with particular emphasis on the methods used to measure very long-chain fatty acid levels in plasma and their reliability. Furthermore, we will concentrate on the primary defect in the X-linked form of adrenoleukodystrophy.
Wanders
R J
RJ
Department of Pediatrics, University Hospital of Amsterdam, The Netherlands.
van Roermund
C W
CW
Lageweg
W
W
Jakobs
B S
BS
Schutgens
R B
RB
Nijenhuis
A A
AA
Tager
J M
JM
D000326:Adrenoleukodystrophy / Q000175:diagnosis / Q000235:genetics*; D003066:Coenzyme A Ligases / Q000172:deficiency; D005227:Fatty Acids / Q000032:analysis / Q000378:metabolism; D006801:Humans; D008830:Microbodies / Q000378:metabolism; D008928:Mitochondria / Q000378:metabolism; D010084:Oxidation-Reduction; D014960:X Chromosome
D005227:Fatty Acids; D003066:Coenzyme A Ligases