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

J Inherit Metab Dis. 1998 Apr;21(2):149-54. doi: 10.1023/a:1005395709826.

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Bile Acids and Salts / metabolism*
  • Cholesterol / metabolism
  • Fatty Acids / metabolism*
  • Humans
  • Infant
  • Male
  • Microbodies / metabolism*
  • Niemann-Pick Diseases / metabolism*
  • Oxidation-Reduction

Substances

  • Bile Acids and Salts
  • Fatty Acids
  • pristanic acid
  • Cholesterol