Glutathione deficiency as a complication of methylmalonic acidemia: response to high doses of ascorbate.

@article{Treacy1996GlutathioneDA,
  title={Glutathione deficiency as a complication of methylmalonic acidemia: response to high doses of ascorbate.},
  author={Eileen P Treacy and Laura Arbour and Phillippe Chessex and Glenn Graham and Lidia Kasprzak and Karen Casey and Luis Bell and Orval A. Mamer and Charles R. Scriver},
  journal={The Journal of pediatrics},
  year={1996},
  volume={129 3},
  pages={445-8}
}
A 7-year-old boy with deficient activity of methylmalonyl coenzyme A mutase (mut-methylmalonic acidemia) was seen in severe metabolic crisis. After hemodialysis and clearance of toxic metabolites, severe lactic acidosis persisted with multiorgan failure. Glutathione deficiency was noted and high-dose ascorbate therapy (120 mg/kg) commenced. Glutathione deficiency may contribute to the lactic acidosis observed during decompensation in patients with methylmalonic acidemia. 

Citations

Publications citing this paper.
Showing 1-10 of 12 extracted citations

Disorders of branched chain amino acid metabolism

Translational science of rare diseases • 2016
View 1 Excerpt

Similar Papers

Loading similar papers…