Genetic testing is necessary for correct diagnosis and treatment in patients with isolated methylmalonic aciduria: a case report

• Main Authors: Katarína Brennerová (Author), Martina Škopková (Author), Mária Ostrožlíková (Author), Jana Šaligová (Author), Juraj Staník (Author), Vladimír Bzdúch (Author), Daniela Gašperíková (Author)
• Format: Book
• Published: BMC, 2021-12-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Isolated methylmalonic aciduria can be caused by pathogenic mutations in the gene for methylmalonyl-CoA mutase or in the genes encoding enzymes involved in the intracellular metabolism of cobalamin. Some of these mutations may be cobalamin responsive. The type of methylmalonic ac...