title: X-linked adrenoleukodystrophy: biochemical diagnosis and enzyme defect.
abstract: 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.
authors.affiliation: Department of Pediatrics, University Hospital of Amsterdam, The Netherlands.
authors.forename: R J
authors.initials: RJ
authors.lastname: Wanders
authors.forename: C W
authors.initials: CW
authors.lastname: van Roermund
authors.forename: W
authors.initials: W
authors.lastname: Lageweg
authors.forename: B S
authors.initials: BS
authors.lastname: Jakobs
authors.forename: R B
authors.initials: RB
authors.lastname: Schutgens
authors.forename: A A
authors.initials: AA
authors.lastname: Nijenhuis
authors.forename: J M
authors.initials: JM
authors.lastname: Tager
mesh_terms: 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
chemical_list: D005227:Fatty Acids; D003066:Coenzyme A Ligases