Pyruvate-carboxylase deficiency with urea cycle impairment.

  title={Pyruvate-carboxylase deficiency with urea cycle impairment.},
  author={Joachim Greter and Jan-Ake Gustafsson and Elisabeth Holme},
  journal={Acta paediatrica Scandinavica},
  volume={74 6},
We report a case of pyruvate-carboxylase deficiency (EC, McKusick 26615) with neonatal onset of lactic acidosis, hyperammonemia, and citrullinemia. The patient developed signs of severe liver damage and died at 13 days of age after increasing metabolic acidosis and severe bleedings. The pyruvate-carboxylase activity in fibroblasts was less than 1% of controls, but normal activities of propionyl-CoA carboxylase (EC and 3-methylcrotonyl-CoA carboxylase (EC were found. To… CONTINUE READING
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