中国当代儿科杂志2026，Vol.28Issue(5)：536-542,7.DOI:10.7499/j.issn.1008-8830.2507095
甲基丙二酸血症儿童生长发育异常的发生状况及治疗策略
Occurrence status and treatment strategies of abnormal growth and development in children with methylmalonic acidemia
卫海燕 1李东晓1
作者信息
- 1. 河南省儿童医院/郑州大学附属儿童医院内分泌代谢科,河南 郑州 450052
- 折叠
摘要
Abstract
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.关键词
甲基丙二酸血症/发育异常/发病机制/生长激素/儿童Key words
Methylmalonic acidemia/Developmental abnormality/Pathogenesis/Growth hormone/Child引用本文复制引用
卫海燕,李东晓..甲基丙二酸血症儿童生长发育异常的发生状况及治疗策略[J].中国当代儿科杂志,2026,28(5):536-542,7.
