Rapid differential diagnosis of carboxylase deficiencies and evaluation for biotin-responsiveness in a single blood sample.

@article{Suormala1985RapidDD,
  title={Rapid differential diagnosis of carboxylase deficiencies and evaluation for biotin-responsiveness in a single blood sample.},
  author={Terttu M Suormala and Hugo Wick and J. P. Bonjour and E. Regula Baumgartner},
  journal={Clinica chimica acta; international journal of clinical chemistry},
  year={1985},
  volume={145 2},
  pages={151-62}
}
We have developed a method for rapid differential diagnosis of isolated or multiple deficiencies of the 3 mitochondrial biotin-dependent carboxylases: propionyl-CoA (PCC), 3-methylcrotonyl-CoA (MCC) and pyruvate carboxylase (PC), and for simultaneous evaluation of biotin-responsiveness using a single blood sample. Lymphocytes were isolated from heparinized blood and preincubated without and with 10(-5) mol/l biotin in medium before determination of PCC, MCC and PC activities. Plasma was used… CONTINUE READING

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