Reduced c27-steroid 26-hydroxylase activity in heterozygotes for cerebrotendinous xanthomatosis

Steinar Skrede, I. Björkhem, E. A. Kvittingen, C. East, Scott M Grundy, Sverre Skrede

Research output: Contribution to journalArticlepeer-review

1 Scopus citations


C27-steroid 26-hydroxylase activity in fibroblasts from two heterozygotes for CTX was determined, using an optimized enzyme assay. With 5βcholestane-3α 7α 12αtriol, 5βcholestane-3α 7αdiol, 7αhydroxy-4-cholesten-3-one or 7αhydroxycholesterol as substrates, the activities were about 50% of those of control cells. The Km for the substrates was not increased in the CTX heterozygotes. These findings support that deficiency of the C27-steroid 26-hydroxylase is the primary enzymatic defect in CTX.

Original languageEnglish (US)
Pages (from-to)425-429
Number of pages5
JournalScandinavian Journal of Clinical and Laboratory Investigation
Issue number5
StatePublished - 1988


  • Cerebrotendinous xanthomatosis
  • Cholesterol metabolism
  • Heterozygote detection

ASJC Scopus subject areas

  • Clinical Biochemistry


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