Reappraising newborn screening for cobalamin C disorder

Methylmalonic acidemia (MMA) is primarily caused by the deficiency of methylmalonyl-CoA mutase (MCM), but it can also be triggered by cobalamin disorders.

Source: Pediatrics and Neonatology - November 30, 2017 Category: Perinatology & Neonatology Authors: Vlad Tocan, Kazuhiro Ohkubo, Kanako Higashi, Naoko Toda, Kanako Kojima-Ishii, Kei Nishiyama, Masataka Ishimura, Hidetoshi Takada, Osamu Sakamoto, Fusako Sasaki, Kazuko Yoshimura, Shinichi Hirose, Shouichi Ohga Tags: Short Communication Source Type: research