Clinical and Molecular Spectrum of Patients with Methylmalonic Acidemia

Conclusions This study cohort had  MMA cblC subtype as the most common type of MMA followed by the MMA mutase defect. Outcomes in MMA are influenced by the type of molecular defect, age, and severity of presentation. Early detection and management is likely to result in better outcomes.
Source: Indian Journal of Pediatrics - Category: Pediatrics Source Type: research