Evaluation of biotin responsiveness in cultured fibroblasts from patients with propionic acidemia: Absence of response by structurally altered carboxylases

Barry Wolf*

*Corresponding author for this work

Research output: Contribution to journalArticle

3 Scopus citations

Abstract

We have demonstrated that, although propionyl CoA carboxylase (PCC) activity is deficient in fibroblast extracts from PCC-deficient patients belonging to the two major and two minor genetic complementation groups, the activity of another biotin-dependent carboxylase, β-methylcrotonyl CoA carboxylase (βMCC), is normal. Moreover, βMCC activity is stimulated when the fibroblasts are cultured in high concentrations of biotin, in the same way that it is in normal fibroblasts, whereas the depressed PCC activity remains essentially unchanged. Because these results are parallel with the in vivo failure of high-dose biotin to stimulate PCC activity in peripheral blood leukocytes, we conclude that the biotin responsiveness of PCC in cultured fibroblasts from patients with PCC deficiency may be used to predict or confirm biotin responsiveness in vivo.

Original languageEnglish (US)
Pages (from-to)709-713
Number of pages5
JournalBiochemical Genetics
Volume17
Issue number7-8
DOIs
StatePublished - Jan 1 1979

Keywords

  • biotin
  • propionic acidemia
  • propionyl CoA carboxylase deficiency

ASJC Scopus subject areas

  • Ecology, Evolution, Behavior and Systematics
  • Biochemistry
  • Molecular Biology
  • Genetics

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