郝丽丽 Li-li HAO

Exploration of Metabolic Alterations in Methylmalonic Acidemia across Distinct Genetic Backgrounds

Abstract 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 symptoma...