Pre-implantation genetic diagnosis in an Iranian family with a novel mutation in MUT gene

• Main Authors: Parham Habibzadeh (Author), Zahra Tabatabaei (Author), Mohammad Ali Farazi Fard (Author), Laila Jamali (Author), Aazam Hafizi (Author), Pooneh Nikuei (Author), Leila Salarian (Author), Mohammad Hossein Nasr Esfahani (Author), Zahra Anvar (Author), Mohammad Ali Faghihi (Author)
• Format: Book
• Published: BMC, 2020-02-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Methylmalonic acidemia (MMA), which is an autosomal recessive metabolic disorder, is caused by mutations in methylmalonyl-CoA mutase (MUT) gene. As a result, the conversion of methylmalonyl-CoA to succinyl-CoA is impaired in this disorder, leading to a wide range of clinical mani...