Open access
Sep 2026
Exploration of Metabolic Alterations in Methylmalonic Acidemia across Distinct Genetic Backgrounds
Methylmalonic acidemia (MMA) is a rare recessively inherited disorder mainly caused by variants in the MMUT and MMACHC genes, leading to the accumulation of methylmalonic acid. The pathophysiological mechanisms of MMA remain poorly understood, and treatments are symptomatic. This study investigated the comprehensive me...
Hai-Juan Zhi, Yi Ding, Yu-Xin Deng et al.
· ACS Omega · 0 citations