title: Carrier identification of X-linked adrenoleukodystrophy by measurement of very long chain fatty acids and lignoceric acid oxidation.
abstract: Because identification of carriers of X-linked adrenoleukodystrophy (ALD) results in 5-15% false negatives with very long chain fatty acids (VLCFA) assay in plasma, and mutation analysis of plasma VLCFA combined with of the ALD gene is not always practical, we studied whether the analysis of plasma VLCFA combined with lignoceric acid oxidation study in fibroblasts could improve the rate of carrier detection. Lignoceric acid oxidation was abnormal in 19 out of 19 patients (ALD or adrenomyeloneuropathy) and in three out of three obligate heterozygous women. Among ten women at risk of being a carrier, three women who had normal plasma VLCFA had abnormal lignoceric acid oxidation in fibroblasts. These data suggest that this combined biochemical procedure may help to improve carrier detection in families when the ALD gene mutation has not been identified.
authors.affiliation: Department of Pediatrics, Gifu University School of Medicine, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Inoue
authors.forename: Y
authors.initials: Y
authors.lastname: Suzuki
authors.forename: S
authors.initials: S
authors.lastname: Yajima
authors.forename: N
authors.initials: N
authors.lastname: Shimozawa
authors.forename: S
authors.initials: S
authors.lastname: Tomatsu
authors.forename: T
authors.initials: T
authors.lastname: Orii
authors.forename: N
authors.initials: N
authors.lastname: Kondo
mesh_terms: D000326:Adrenoleukodystrophy / Q000378:metabolism*; D002478:Cells, Cultured; D005227:Fatty Acids / Q000097:blood* / Q000378:metabolism*; D005260:Female; D005347:Fibroblasts / Q000166:cytology / Q000378:metabolism; D006579:Heterozygote; D006801:Humans; D008297:Male; D010084:Oxidation-Reduction; D013109:Sphingomyelins / Q000097:blood; D014960:X Chromosome
chemical_list: D005227:Fatty Acids; D013109:Sphingomyelins; C010210:lignoceric acid