The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients.

@article{Patel2012TheSO,
  title={The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients.},
  author={Kavi P Patel and Thomas W O'brien and Sankarasubramon H. Subramony and Jonathan J Shuster and Peter W. Stacpoole},
  journal={Molecular genetics and metabolism},
  year={2012},
  volume={105 1},
  pages={34-43}
}
CONTEXT Pyruvate dehydrogenase complex (PDC) deficiency is a genetic mitochondrial disorder commonly associated with lactic acidosis, progressive neurological and neuromuscular degeneration and, usually, death during childhood. There has been no recent comprehensive analysis of the natural history and clinical course of this disease. OBJECTIVE We reviewed 371 cases of PDC deficiency, published between 1970 and 2010, that involved defects in subunits E1α and E1β and components E1, E2, E3 and… CONTINUE READING