甲基丙二酸血症（methylmalonic acidemia, MMA）患儿的生长发育异常已成为影响预后的核心挑战。作为一种相对常见的有机酸代谢障碍，MMA病因复杂，临床表现高度异质。其中，神经发育迟缓与体格发育障碍尤为突出，是导致患儿长期预后不佳的关键因素。因此，对这些生长发育问题的早期识别、精细化评估及个体化干预，是当前MMA临床管理的重点。该文聚焦MMA生长发育异常的发生现状、潜在机制及干预策略，旨在为优化患儿管理、改善长期结局提供参考。

Abnormalities in growth and development in children with methylmalonic acidemia (MMA) have become a central challenge affecting prognosis. As a relatively common disorder of organic acid metabolism, MMA has a complex etiology and exhibits highly heterogeneous clinical manifestations. Among these, neurodevelopmental delay and impaired somatic growth are particularly prominent and are key determinants of poor long-term outcomes. Accordingly, early identification, refined assessment, and individualized intervention for these growth and developmental problems are focal points of current MMA clinical management. This review focuses on the occurrence status, potential mechanisms, and intervention strategies for growth and developmental abnormalities in MMA, aiming to provide a reference for optimizing patient management and improving long-term outcomes.