title: Niemann-Pick disease type C and defective peroxisomal beta-oxidation of branched-chain substrates.
abstract: An 18-month-old infant presented with hypotonia, motor delay, hepatosplenomegaly, rickets and steatorrhoea. Biochemical investigations revealed typical features of Niemann-Pick disease type C. In addition, there was evidence of defective peroxisomal beta-oxidation of branched-chain substrates (3 alpha, 7 alpha, 12 alpha-trihydroxycholestanoic acid and pristanic acid). The steatorrhoea and fat-soluble vitamin malabsorption responded well to bile acid therapy. Possible causes for the double defect are considered.
authors.affiliation: Institute of Child Health, London, UK.
authors.forename: J S
authors.initials: JS
authors.lastname: Sequeira
authors.forename: A
authors.initials: A
authors.lastname: Vellodi
authors.forename: M T
authors.initials: MT
authors.lastname: Vanier
authors.forename: P T
authors.initials: PT
authors.lastname: Clayton
mesh_terms: D001647:Bile Acids and Salts / Q000378:metabolism*; D002784:Cholesterol / Q000378:metabolism; D005227:Fatty Acids / Q000378:metabolism*; D006801:Humans; D007223:Infant; D008297:Male; D008830:Microbodies / Q000378:metabolism*; D009542:Niemann-Pick Diseases / Q000378:metabolism*; D010084:Oxidation-Reduction
chemical_list: D001647:Bile Acids and Salts; D005227:Fatty Acids; C002844:pristanic acid; D002784:Cholesterol