Article
Three novel and six common mutations in 11 patients with methylmalonic acidemia.
Pediatrics international : official journal of the Japan Pediatric Society - 1 Feb 2006
Kobayashi Azusa, Kakinuma Hiroaki, Takahashi Hiroaki
Abstract excerpt
BACKGROUND: Patients with a defect in methylmalonyl-coenzyme A mutase (MCM) are classified as having methylmalonic acidemia, which is divided into two subclasses: mut(0) and mut(-). Fifty-five disease-causing mutations have been identified. Although most are private mutations, only three (E117X, G717V, and N219Y) are reportedly common in Japanese, Black, and Caucasian populations, respectively. Here we identified...
Topics
- Child, Preschool
- DNA Mutational Analysis
- Humans
- Infant
- Infant, Newborn
- Methylmalonic Acid
- Methylmalonyl-CoA Mutase
- Mutation