Methylmalonic aciduria (cblF): case report and response to therapy.
Methylmalonic acidemia can be secondary to a deficiency of methylmalonyl CoA mutase or to a defect of cobalamin metabolism that is classified by complementation group. We report on a new patient with cblF complementation group that is associated with an elevation of both methylmalonic acid and homocysteine, and her outcome in response to routine therapy and a dietary restriction.
Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri, USA. waggonervd@a1.kids.wustl.edu
D J
DJ
Waggoner
K
K
Ueda
C
C
Mantia
S B
SB
Dowton
D000293:Adolescent; D000592:Amino Acid Metabolism, Inborn Errors / Q000473:pathology / Q000628:therapy; D005260:Female; D006801:Humans; D008764:Methylmalonic Acid / Q000652:urine*; D011422:Propionates / Q000378:metabolism; D014805:Vitamin B 12 / Q000378:metabolism
D011422:Propionates; D008764:Methylmalonic Acid; D014805:Vitamin B 12