Lactate dehydrogenase M-subunit deficiency: a new type of hereditary exertional myopathy.

@article{Kanno1988LactateDM,
  title={Lactate dehydrogenase M-subunit deficiency: a new type of hereditary exertional myopathy.},
  author={Takashi Kanno and Kayoko Sudo and Masato Maekawa and Yutaka Nishimura and Masao Ukita and Katsuhiro Fukutake},
  journal={Clinica chimica acta; international journal of clinical chemistry},
  year={1988},
  volume={173 1},
  pages={89-98}
}
Three families with a complete deficiency of the lactate dehydrogenase M subunit show exertional myoglobinuria. The response to ischemic forearm work is characteristic in these three families: an increase of venous lactate concentration after ischemic work was not observed and a marked increase of venous pyruvate was found. Glycolysis was markedly retarded in the patient's muscle in the glyceraldehyde 3-phosphate dehydrogenase (GA3PD) step. A significant increases in glyceraldehyde 3-phosphate… CONTINUE READING