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

J Pediatr. 1996 Sep;129(3):445-8. doi: 10.1016/s0022-3476(96)70080-x.

Abstract

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.

Publication types

  • Case Reports

MeSH terms

  • Acidosis, Lactic / etiology
  • Acidosis, Lactic / therapy
  • Acute Disease
  • Amino Acid Metabolism, Inborn Errors / complications*
  • Amino Acid Metabolism, Inborn Errors / therapy
  • Ascorbic Acid / administration & dosage*
  • Child
  • Glutathione / deficiency*
  • Humans
  • Male
  • Methylmalonic Acid / blood*
  • Renal Dialysis

Substances

  • Methylmalonic Acid
  • Glutathione
  • Ascorbic Acid