Methylmalonic aciduria (cblF): case report and response to therapy

Am J Med Genet. 1998 Oct 12;79(5):373-5.

Abstract

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.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adolescent
  • Amino Acid Metabolism, Inborn Errors / pathology
  • Amino Acid Metabolism, Inborn Errors / therapy
  • Female
  • Humans
  • Methylmalonic Acid / urine*
  • Propionates / metabolism
  • Vitamin B 12 / metabolism

Substances

  • Propionates
  • Methylmalonic Acid
  • Vitamin B 12