Mutational spectrum in ten Italian patients affected by methylmalonyl-CoA mutase deficiency

Molecular basis of methylmalonyl-CoA mut

Molecular basis of methylmalonyl-CoA mutase apoenzyme defect in 40 European patients affected by mut° and mut– forms of methylmalonic acidemia: Identification of 29 novel mutations in the MUT gene

✍ Cécile Acquaviva; Jean-François Benoist; Sabrina Pereira; Isabelle Callebaut; Th 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 204 KB

## Communicated by Johannes Zschocke Methylmalonyl-CoA mutase (MCM) apoenzyme deficiency is a rare metabolic disease that may result in distinct biochemical phenotypes of methylmalonic acidemia (MMA), namely mut1 and mut-. We analyzed a cohort of 40 MCM-deficient patients with MMA affected by eithe