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

D. J. Waggoner*, K. Ueda, C. Mantia, S. B. Dowton

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

17 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)373-375
Number of pages3
JournalAmerican Journal of Medical Genetics
Issue number5
Publication statusPublished - 12 Oct 1998
Externally publishedYes


Dive into the research topics of 'Methylmalonic aciduria (cblF): case report and response to therapy'. Together they form a unique fingerprint.

Cite this