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Niemann-Pick disease type C and defective peroxisomal beta-oxidation of branched-chain substrates
J S Sequeira1, A Vellodi, M T Vanier
1Institute of Child Health, London, UK.
Journal of Inherited Metabolic Disease
|May 19, 1998
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.