X-linked pyruvate dehydrogenase E1α subunit deficiency in heterozygous females: Variable manifestation of the same mutation

@article{Dahl1992XlinkedPD,
  title={X-linked pyruvate dehydrogenase E1α subunit deficiency in heterozygous females: Variable manifestation of the same mutation},
  author={H-H. M. Dahl and Lars Lindgaard Hansen and R. Malcolm Brown and David M. Danks and John G. Rogers and Garry Brown},
  journal={Journal of Inherited Metabolic Disease},
  year={1992},
  volume={15},
  pages={835-847}
}
Three female patients are described with pyruvate dehydrogenase (PDH) deficiency as a result of mutation in the X-linked gene for the E1α subunit of the complex. Two of these patients illustrate typical presentations of PDH E1α deficiency, with severe neurological dysfunction, degenerative changes and developmental anomalies in the brain, together with… CONTINUE READING