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 journalArticle

16 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)373-375
Number of pages3
JournalAmerican Journal of Medical Genetics
Volume79
Issue number5
DOIs
Publication statusPublished - 12 Oct 1998
Externally publishedYes

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