Di- and trihydroxycholestanoic acidaemia with hepatic failure

J Inherit Metab Dis. 1990;13(3):367-70. doi: 10.1007/BF01799397.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Acatalasia
  • Bile Acids and Salts / blood
  • Cholestanols / blood*
  • Cholic Acids / blood*
  • Fatty Acids / blood
  • Humans
  • Infant
  • Liver Diseases / metabolism*
  • Male
  • Oxidoreductases / deficiency*

Substances

  • 3,7-dihydroxycholestan-26-oic acid
  • Bile Acids and Salts
  • Cholestanols
  • Cholic Acids
  • Fatty Acids
  • 3,7,12-trihydroxycoprostanic acid
  • Oxidoreductases
  • palmitoyl CoA oxidase
  • trihydroxycholestanoyl-CoA oxidase