Recent research advances in the biological function and molecular mechanism of methylmalonic acid.

Abstract

The abnormal accumulation of methylmalonic acid (MMA), the leading cause of methylmalonic acidemia, can cause irreversible damage to the brain, kidney, and cardiovascular system. In addition, the accumulation of MMA in the blood has recently been associated with the occurrence of cancer, restricted bodily movement, and growth retardation. In this review, recent studies on the relationship between the metabolic abnormality of MMA and disease occurrence were summarized, concerning the brain, kidney, cardiovascular system, cancer, and skeletal muscles. It provides a theoretical basis and reference for further research and the treatment of MMA-related pathophysiological changes.