The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders

@article{Sperl2014TheSO,
  title={The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders},
  author={Wolfgang Sperl and Leanne H J Fleuren and Peter Freisinger and Tobias B. Haack and A Garc{\'i}a Ribes and Ren{\'e} G Feichtinger and Richard J T Rodenburg and Franz A Zimmermann and Johannes Koch and I Robin Rivera and Holger Prokisch and Jan A M Smeitink and Johannes A Mayr},
  journal={Journal of Inherited Metabolic Disease},
  year={2014},
  volume={38},
  pages={391-403}
}
Pyruvate oxidation defects (PODs) are among the most frequent causes of deficiencies in the mitochondrial energy metabolism and represent a substantial subset of classical mitochondrial diseases. PODs are not only caused by deficiency of subunits of the pyruvate dehydrogenase complex (PDHC) but also by various disorders recently described in the whole pyruvate oxidation route including cofactors, regulation of PDHC and the mitochondrial pyruvate carrier. Our own patients from 2000 to July 2014… CONTINUE READING
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