title: X-linked adrenoleukodystrophy with non-diagnostic plasma very long chain fatty acids.
abstract: Measurement of plasma very long chain fatty acids is widely recognised as a sensitive screening test for X-linked adrenoleukodystrophy (X-ALD). This test has particular importance because of the highly variable clinical expression of X-ALD. In this affected family the progressive childhood form of X-ALD was accompanied by "non-diagnostic" concentrations of plasma very long chain fatty acids. The implications for diagnosis of X-ALD are discussed.
authors.affiliation: Department of Paediatric Neurology, Southampton General Hospital, UK.
authors.forename: C R
authors.initials: CR
authors.lastname: Kennedy
authors.forename: J T
authors.initials: JT
authors.lastname: Allen
authors.forename: A H
authors.initials: AH
authors.lastname: Fensom
authors.forename: S J
authors.initials: SJ
authors.lastname: Steinberg
authors.forename: R
authors.initials: R
authors.lastname: Wilson
mesh_terms: D000326:Adrenoleukodystrophy / Q000097:blood* / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics / Q000517:prevention & control; D002648:Child; D005227:Fatty Acids / Q000097:blood*; D015870:Gene Expression; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D008403:Mass Screening / Q000379:methods*; D010641:Phenotype; D012680:Sensitivity and Specificity; D014057:Tomography, X-Ray Computed; D014960:X Chromosome
chemical_list: D005227:Fatty Acids