DEFICIENCY OF MUSCLE CYTOCHROME C OXIDASE (CO) IN LEIGH'S DISEASE

@article{Hoganson1984DEFICIENCYOM,
  title={DEFICIENCY OF MUSCLE CYTOCHROME C OXIDASE (CO) IN LEIGH'S DISEASE},
  author={George E. Hoganson and Dennis J. Paulson and Raymond Y. T. Chun and Robert L. Sufit and Austin L. Shug},
  journal={Pediatric Research},
  year={1984},
  volume={18},
  pages={222}
}
A 3y/o male presented with a progressive neurologic disorder characterized by hypotonia, ophthalmoplegia and ataxia. Post-mortum studies at 4 1/2y revealed Leigh's disease. Biochemical findings included elevation of blood lactate (L) (ranging from 1.9 to 7.0mM, normal mean ± SD 1.0±0.4mM), pyruvate (P) (0.11 to 0.25, normal 0.11±0.03mM) and L/P ratio (14 to 35, normal 10 to 18). β-OH-butyrate (BOH), acetoacetate and L were intermittently present in urine. Plasma amino acids were normal. CSF L… CONTINUE READING