Neonatal pyruvate dehydrogenase deficiency with lipoate responsive lactic acidaemia and hyperammonaemia

@article{Byrd1989NeonatalPD,
  title={Neonatal pyruvate dehydrogenase deficiency with lipoate responsive lactic acidaemia and hyperammonaemia},
  author={Dennis J. Byrd and Herbert Krohn and Lothar Winkler and C. Steinborn and Martin R. Hadam and Johannes Brodehl and Donald H. Hunneman},
  journal={European Journal of Pediatrics},
  year={1989},
  volume={148},
  pages={543-547}
}
A 2-day-old girl developed a severe lactic acidosis with a normal lactate/pyruvate ratio and hyperammonaemia. Plasma arginine and citrulline levels were below the limit of detection. In muscle total pyruvate dehydrogenase complex (PDHC) and pyruvate decarboxylase (E1) activities were reduced to a fraction of lower control values. The acute neonatal period was bridged with peritoneal dialysis, dichloroacetate therapy, supplements of arginine and branched chain amino acids, a complete vitamin B… CONTINUE READING

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Lactic acidemia

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  • J Inherited Metab Dis 7 [Suppl
  • 1984
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