, Volume 21, Issue 2, pp 149-154

Niemann–Pick disease type C and defective peroxisomal β-oxidation of branched-chain substrates

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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 β-oxidation of branched-chain substrates (3α,7α,12α-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.