title: Glutathione deficiency as a complication of methylmalonic acidemia: response to high doses of ascorbate.
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.
authors.affiliation: Biochemical Genetics Unit, Montreal Children's Hospital, McGill University, Montreal, Quebec, Canada.
authors.forename: E
authors.initials: E
authors.lastname: Treacy
authors.forename: L
authors.initials: L
authors.lastname: Arbour
authors.forename: P
authors.initials: P
authors.lastname: Chessex
authors.forename: G
authors.initials: G
authors.lastname: Graham
authors.forename: L
authors.initials: L
authors.lastname: Kasprzak
authors.forename: K
authors.initials: K
authors.lastname: Casey
authors.forename: L
authors.initials: L
authors.lastname: Bell
authors.forename: O
authors.initials: O
authors.lastname: Mamer
authors.forename: C R
authors.initials: CR
authors.lastname: Scriver
mesh_terms: D000140:Acidosis, Lactic / Q000209:etiology / Q000628:therapy; D000208:Acute Disease; D000592:Amino Acid Metabolism, Inborn Errors / Q000150:complications* / Q000628:therapy; D001205:Ascorbic Acid / Q000008:administration & dosage*; D002648:Child; D005978:Glutathione / Q000172:deficiency*; D006801:Humans; D008297:Male; D008764:Methylmalonic Acid / Q000097:blood*; D006435:Renal Dialysis
chemical_list: D008764:Methylmalonic Acid; D005978:Glutathione; D001205:Ascorbic Acid