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1998•American Journal of Medical GeneticsRequires access

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

Darrel Waggoner, Kosei Ueda, Claudia La Mantia, S. Bruce Dowton

Open publisher page 17 citations

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.

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What this paper is about

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.

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OpenAlex reports 17 citations for this work. Citation counts describe recorded attention and do not establish research quality.

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Available 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.

Key concepts: Methylmalonic acid, Methylmalonic aciduria, Cobalamin, Methylmalonic acidemia, Mutase, Complementation, Homocysteine, Internal medicine

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