title: X linked adrenoleukodystrophy: clinical presentation, diagnosis, and therapy.
abstract: X linked adrenoleukodystrophy (X-ALD) is an inherited disorder of peroxisomal metabolism, biochemically characterised by accumulation of saturated very long chain fatty acids. Accumulation of these fatty acids is associated with cerebral demyelination, peripheral nerve abnormalities, and adrenocortical and testicular insufficiency. The lowest estimated birth incidence is one per 100,000. At least six phenotypes can be distinguished, of which the two most frequent are childhood cerebral ALD and adrenomyeloneuropathy. The X-ALD gene has been identified, but thus far no relation between genotype and phenotype has been found. Diagnosis is relatively easy and can be confirmed reliably, and prenatal testing is possible in affected families. Several therapeutic options, some with promising perspectives, are available. Neurologists and other physicians seem not to be familiar with the many facets of X-ALD. In this review, the clinical presentation, the relative frequencies of the different phenotypes, and the diagnostic and therapeutic options are presented.
authors.affiliation: Department of Neurology, Academic Medical Center, University of Amsterdam, the Netherlands.
authors.forename: B M
authors.initials: BM
authors.lastname: van Geel
authors.forename: J
authors.initials: J
authors.lastname: Assies
authors.forename: R J
authors.initials: RJ
authors.lastname: Wanders
authors.forename: P G
authors.initials: PG
authors.lastname: Barth
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D000368:Aged; D002648:Child; D004042:Dietary Fats, Unsaturated / Q000627:therapeutic use; D004338:Drug Combinations; D004883:Erucic Acids / Q000627:therapeutic use; D005227:Fatty Acids / Q000378:metabolism; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D008830:Microbodies / Q000378:metabolism; D018901:Peroxisomal Disorders / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics; D010641:Phenotype; D011296:Prenatal Diagnosis; D014304:Triolein / Q000627:therapeutic use; D014960:X Chromosome / Q000235:genetics*
chemical_list: D004042:Dietary Fats, Unsaturated; D004338:Drug Combinations; D004883:Erucic Acids; D005227:Fatty Acids; C079420:Lorenzo's oil; D014304:Triolein