title: Phytanic acid alpha-oxidase deficiency (Refsum disease) presenting in infancy.
abstract: This report describes a patient with high serum phytanic acid concentration due to phytanic acid alpha-oxidase deficiency (classical Refsum disease). He presented unusually early, hypotonia and developmental delay being apparent by 7 months. A generalized peroxisomal disorder (so-called 'infantile Refsum disease') was excluded by analyses of pristanic acid, very long-chain fatty acids, bile acids and plasmalogen synthesis. The early presentation raises the possibility of in utero exposure to phytanate.
authors.affiliation: Hospital for Sick Children, London, UK.
authors.forename: M A
authors.initials: MA
authors.lastname: Herbert
authors.forename: P T
authors.initials: PT
authors.lastname: Clayton
mesh_terms: D008401:Gas Chromatography-Mass Spectrometry; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D006899:Mixed Function Oxygenases / Q000172:deficiency* / Q000235:genetics; D009135:Muscular Diseases / Q000235:genetics; D010831:Phytanic Acid / Q000097:blood*; D012035:Refsum Disease / Q000097:blood* / Q000178:diet therapy / Q000235:genetics; D014057:Tomography, X-Ray Computed
chemical_list: D010831:Phytanic Acid; D006899:Mixed Function Oxygenases; C022397:phytanic acid alpha-oxidase