Fatal carnitine palmitoyltransferase II deficiency in a newborn: new phenotypic features.

@article{Pierce1999FatalCP,
  title={Fatal carnitine palmitoyltransferase II deficiency in a newborn: new phenotypic features.},
  author={Maria R Pierce and Gabriella Pridjian and Stuart Morrison and Arthur S. Pickoff},
  journal={Clinical pediatrics},
  year={1999},
  volume={38 1},
  pages={13-20}
}
We describe the term male infant of asymptomatic, healthy nonconsanguineous parents presenting on the first day of life with nonketotic hypoglycemia, seizures, hepatomegaly, cardiomegaly with biventricular hypertrophy, and ventricular arrhythmias. Cranial ultrasound revealed cystic dysplasia with several foci of hyperechogenicity within the right basal ganglia. Free carnitine was markedly decreased in the urine and plasma with a pronounced elevation of plasma long-chain acylcarnitines… CONTINUE READING