Functional characterization of the carnitine transporter defective in primary carnitine deficiency.

@article{Scaglia1999FunctionalCO,
  title={Functional characterization of the carnitine transporter defective in primary carnitine deficiency.},
  author={Fernando Scaglia and Yanli Wang and Nicola Longo},
  journal={Archives of biochemistry and biophysics},
  year={1999},
  volume={364 1},
  pages={99-106}
}
Primary carnitine deficiency is an autosomal recessive disorder caused by defective carnitine transport which impairs fatty acid oxidation and manifests as nonketotic hypoglycemia or skeletal or heart myopathy. Here we report the functional characterization of this transporter in human fibroblasts. Carnitine enters normal cells by saturable and unsaturable routes, the latter corresponding to Na+-independent uptake. Saturable carnitine transport was absent in cells from patients with primary… CONTINUE READING
13 Citations
0 References
Similar Papers

Citations

Publications citing this paper.
Showing 1-10 of 13 extracted citations

Similar Papers

Loading similar papers…