title: Straight-chain acyl-CoA oxidase deficiency presenting with dysmorphia, neurodevelopmental autistic-type regression and a selective pattern of leukodystrophy.
abstract: We report a rare case of straight-chain acyl-CoA oxidase deficiency (McKusick 264470) presenting with dysmorphism, neurodevelopmental regression and leukodystrophy.
authors.affiliation: Department of Paediatric Neurology, The Children's University Hospital, Dublin, Ireland.
authors.forename: M A
authors.initials: MA
authors.lastname: Kurian
authors.forename: S
authors.initials: S
authors.lastname: Ryan
authors.forename: G T N
authors.initials: GT
authors.lastname: Besley
authors.forename: R J A
authors.initials: RJ
authors.lastname: Wanders
authors.forename: M D
authors.initials: MD
authors.lastname: King
mesh_terms: D000015:Abnormalities, Multiple / Q000209:etiology*; D042962:Acyl-CoA Oxidase / Q000172:deficiency*; D001321:Autistic Disorder / Q000209:etiology*; D001927:Brain Diseases / Q000175:diagnosis / Q000209:etiology*; D001933:Brain Stem / Q000473:pathology; D002531:Cerebellum / Q000473:pathology; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000209:etiology; D006529:Hepatomegaly / Q000209:etiology; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008661:Metabolism, Inborn Errors / Q000150:complications*
chemical_list: D042962:Acyl-CoA Oxidase