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 |
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Pages (from-to) | 373-375 |
Number of pages | 3 |
Journal | American Journal of Medical Genetics |
Volume | 79 |
Issue number | 5 |
DOIs | |
Publication status | Published - 12 Oct 1998 |
Externally published | Yes |