Biochemical Genetics

, Volume 17, Issue 7–8, pp 709–713 | Cite as

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

  • Barry Wolf
Note

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.

Key words

propionic acidemia propionyl CoA carboxylase deficiency biotin 

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References

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Copyright information

© Plenum Publishing Corporation 1979

Authors and Affiliations

  • Barry Wolf
    • 1
  1. 1.Departments of Human Genetics and PediatricsMedical College of VirginiaRichmond

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