The clinical and biochemical implications of pyruvate carboxylase deficiency.

  title={The clinical and biochemical implications of pyruvate carboxylase deficiency.},
  author={Darryl C Devivo and Morey W Haymond and Mary P Leckie and Y L Bussman and David B. McDougal and Anthony S Pagliara},
  journal={The Journal of clinical endocrinology and metabolism},
  volume={45 6},
A 10 month old female infant was evaluated for severe lactic acidosis. Clinically she was well nourished and had a substantial amount of adipose tissue despite recurrent episodes of acidosis. Her psychomotor development was retarded, her movements were dystonic and generalized seizures punctuated her course. Metabolic abnormalities included elevated blood concentrations of lactate, pyruvate, beta-hydroxybutyrate, acetoacetate, alanine, proline and glycine, decreased blood concentrations of… CONTINUE READING
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