title: Restoration of phytanic acid oxidation in Refsum disease fibroblasts from patients with mutations in the phytanoyl-CoA hydroxylase gene.
abstract: Refsum disease (RD) is biochemically characterized by the excessive accumulation of phytanic acid in tissues and body fluids due to deficiency of phytanoyl-CoA hydroxylase (PAHX). In this study, we screened three RD patients and identified a novel deletion (88 amino acids), and a missense mutation (Arg275Trp) in the previously reported PAHX cDNA (Jansen et al., 1997; Mihalik et al., 1997). Moreover, transfection of skin fibroblasts from two RD patients with wild-type PAHX gene restored the activity for alpha-oxidation of phytanic acid. Southern analysis on a somatic cell hybrid panel detected the PAHX gene on chromosome 10, corroborating radiation hybrid and homozygosity mapping data (Mihalik et al., 1997; Nadal et al., 1995).
authors.affiliation: Department of Pediatrics, Medical University of South Carolina, Charleston 29425, USA.
authors.forename: A
authors.initials: A
authors.lastname: Chahal
authors.forename: M
authors.initials: M
authors.lastname: Khan
authors.forename: S G
authors.initials: SG
authors.lastname: Pai
authors.forename: E
authors.initials: E
authors.lastname: Barbosa
authors.forename: I
authors.initials: I
authors.lastname: Singh
mesh_terms: D002874:Chromosome Mapping; D002879:Chromosomes, Human, Pair 10 / Q000235:genetics; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D006899:Mixed Function Oxygenases / Q000235:genetics* / Q000378:metabolism; D009154:Mutation; D010084:Oxidation-Reduction; D010831:Phytanic Acid / Q000378:metabolism*; D012035:Refsum Disease / Q000201:enzymology* / Q000378:metabolism; D014162:Transfection
chemical_list: D010831:Phytanic Acid; D006899:Mixed Function Oxygenases; C102623:PHYH protein, human