发育医学电子杂志 Vol. 10 386-391 DOI: 10.3969/j.issn.2095-5340.2022.05.011
临床遗传
综述
甲基丙二酸血症合并眼部并发症文献 复习和总结
李育霖 孙萌 李盼盼 邹卉
山东第一医科大学附属济南妇幼保健院 新生儿 疾病筛查中心，山东 济南 250001）
Literature review and summary of methylmalonic acidemia with ocular complications
Li Yulin, Sun Meng, Li Panpan, et al
摘要 甲基丙二酸血症（methylmalonic academia， MMA）是一种常染色体隐性遗传病，主要是由 于甲基丙二酰辅酶A 变位酶（methylmalonyl- CoA mutase）自身缺陷（mut 型）或其辅酶钴胺素 （cobalamin， cbl， 维生素B12）代谢缺陷（cbl 型），导 致甲基丙二酸、3- 羟基丙酸及甲基枸橼酸等代谢 物异常蓄积引起的疾病。与MMA 相关的基因中 较常见的有 MMUT、MMAA、MMAB、MMADHC、 MMACHC、 LMBRD1、SLC22A5 等，我国较为常见 的类型为 MMACHC 基因变异导致的cblC 型和 MMUT 基因变异导致的mut 型［1］。MMA 患者临 床表现各异，其中以神经系统表现最为明显，早发 型患者多于1 岁以内起病，以神经系统症状最为严 重，可表现为惊厥、生长迟缓、运动功能障碍等；迟 发型患儿多于4~14 岁出现症状，甚至于成年起病， 可表现为记忆力受损、行为和性格改变等［1-4］ 。
关键词:
甲基丙二酸血症
并发症
眼病
收稿日期: 2022-03-28
发布日期: 2022-09-30
基金资助: 山东省自然科学基金（ZR2020MH334）
通讯作者:
邹卉
E-mail: zouhui819@163.com
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