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Occurrence status and treatment strategies of abnormal growth and development in children with methylmalonic acidemia
Hai-Yan WEI, Dong-Xiao LI
Chinese Journal of Contemporary Pediatrics ›› 2026, Vol. 28 ›› Issue (5) : 536-542.
PDF(648 KB)
PDF(648 KB)
Occurrence status and treatment strategies of abnormal growth and development in children with methylmalonic acidemia
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.
Methylmalonic acidemia / Developmental abnormality / Pathogenesis / Growth hormone / Child
| [1] |
|
| [2] |
中国妇幼保健协会出生缺陷防治与分子遗传分会, 中国优生科学协会早产与早产儿管理分会, 中华预防医学会残疾预防与控制专业委员会, 等. 甲基丙二酸血症合并同型半胱氨酸血症cblC型所致脑积水诊疗与预防专家共识[J]. 中华新生儿科杂志(中英文), 2022, 37(6): 481-487. DOI: 10.3760/cma.j.issn.2096-2932.2022.06.001 .
|
| [3] |
|
| [4] |
|
| [5] |
|
| [6] |
|
| [7] |
|
| [8] |
|
| [9] |
|
| [10] |
中华预防医学会出生缺陷预防与控制专业委员会新生儿筛查学组, 中华医学会儿科学分会临床营养学组, 中华医学会儿科学分会内分泌遗传代谢学组, 等. 单纯型甲基丙二酸尿症饮食治疗与营养管理专家共识[J]. 中国实用儿科杂志, 2018, 33(7): 481-486. DOI: 10.19538/j.ek2018070601 .
|
| [11] |
|
| [12] |
|
| [13] |
|
| [14] |
|
| [15] |
|
| [16] |
|
| [17] |
|
| [18] |
|
| [19] |
|
| [20] |
|
| [21] |
程沛迪, 郑萍, 陈倩. 甲基丙二酸血症线粒体功能障碍研究进展[J]. 中国医学前沿杂志(电子版), 2024, 16(8): 69-72. DOI: 10.12037/YXQY.2024.08-10 .
|
| [22] |
张诺楠, 陆相朋, 郑宏, 等. 线粒体功能障碍与甲基丙二酸尿症发病关系的研究进展[J]. 医学综述, 2023, 29(8): 1457-1461. DOI: 10.3969/j.issn.1006-2084.2023.08.001 .
|
| [23] |
|
| [24] |
|
| [25] |
郑宏, 马丙祥, 陆相朋. 甲基丙二酸血症神经发育障碍分析与康复策略[J]. 中国实用儿科杂志, 2024, 39(2): 152-156. DOI: 10.19538/j.ek2024020615 .
|
| [26] |
|
| [27] |
|
| [28] |
|
| [29] |
|
| [30] |
|
| [31] |
|
| [32] |
|
| [33] |
|
| [34] |
|
| [35] |
|
| [36] |
|
| [37] |
|
| [38] |
中国临床试验注册中心. 早期应用PEG-rhGH对合并型甲基丙二酸血症患儿神经发育及认知功能的影响[EB/OL]. (2021-12-21)[2025-12-09].
|
| [39] |
|
| [40] |
|
| [41] |
|
| [42] |
|
| [43] |
|
| [44] |
|
| [45] |
|
所有作者声明无利益冲突。