A new peroxisomal disorder: di- and trihydroxycholestanaemia due to a presumed trihydroxycholestanoyl-CoA oxidase deficiency

J Inherit Metab Dis. 1990;13(3):363-6. doi: 10.1007/BF01799396.
No abstract available

Publication types

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

MeSH terms

  • Bile Acids and Salts / blood
  • Child, Preschool
  • Cholestanols / blood*
  • Cholic Acids / blood*
  • Fatty Acids / blood
  • Female
  • Fibroblasts / enzymology
  • Humans
  • Microbodies / enzymology*
  • Oxidoreductases / deficiency*
  • Phytanic Acid / blood

Substances

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