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

AuthorsE Christensen, J Van Eldere, N J Brandt, R B Schutgens, R J Wanders, H J Eyssen
JournalJournal of inherited metabolic disease (J Inherit Metab Dis) Vol. 13 Issue 3 Pg. 363-6 ( 1990) ISSN: 0141-8955 [Print] United States
PMID2122101 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
Chemical References
  • 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
Topics
  • 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)

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