Pyruvate carboxylase de W ciency : clinical and biochemical response to anaplerotic diet therapy

@inproceedings{Mochela2005PyruvateCD,
  title={Pyruvate carboxylase de W ciency : clinical and biochemical response to anaplerotic diet therapy},
  author={Fanny Mochela and Pascale DeLonlaya and Guy Touatia and Henri Brunengraberb and Renee P. Kinmanb and Daniel Rabiera and Charles R. Roed and Jean-Marie Saudubraya},
  year={2005}
}
  • Fanny Mochela, Pascale DeLonlaya, +5 authors Jean-Marie Saudubraya
  • Published 2005
A six-day-old girl was referred for severe hepatic failure, dehydratation, axial hypotonia, and both lactic acidosis and ketoacidosis. Biotin-unresponsive pyruvate carboxylase deWciency type B was diagnosed. Triheptanoin, an odd-carbon triglyceride, was administrated as a source for acetyl-CoA and anaplerotic propionyl-CoA. Although this patient succumbed to a severe infection, during the six months interval of her anaplerotic and biochemical management, the following important observations… CONTINUE READING