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.
Treacy
E
E
Biochemical Genetics Unit, Montreal Children's Hospital, McGill University, Montreal, Quebec, Canada.
Arbour
L
L
Chessex
P
P
Graham
G
G
Kasprzak
L
L
Casey
K
K
Bell
L
L
Mamer
O
O
Scriver
C R
CR
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
D008764:Methylmalonic Acid; D005978:Glutathione; D001205:Ascorbic Acid