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

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. (J PEDIATR 1996;129:445-8)