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

D. J. Waggoner; K. Ueda; C. Mantia; S. B. Dowton

doi:10.1002/(SICI)1096-8628(19981012)79:5<373::AID-AJMG8>3.0.CO;2-K

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 journal › Article › peer-review

17 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 language	English
Pages (from-to)	373-375
Number of pages	3
Journal	American Journal of Medical Genetics
Volume	79
Issue number	5
DOIs	https://doi.org/10.1002/(SICI)1096-8628(19981012)79:5<373::AID-AJMG8>3.0.CO;2-K
Publication status	Published - 12 Oct 1998
Externally published	Yes

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10.1002/(SICI)1096-8628(19981012)79:5<373::AID-AJMG8>3.0.CO;2-K

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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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AU - Dowton, S. B.

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

Abstract

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