✦ LIBER ✦

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

✍ Scribed by Waggoner, D.J.; Ueda, K.; Mantia, C.; Dowton, S.B.

Publisher: John Wiley and Sons
Year: 1998
Tongue: English
Weight: 19 KB
Volume: 79
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19981012)79:5<373::aid-ajmg8>3.0.co;2-k

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✦ Synopsis

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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