晚发型cblC型甲基丙二酸尿症合并同型半胱氨酸血症1例报告并文献复习  

Late‑onset cblC‑type methylmalonic aciduria with homocysteinemia:A case report and literature review

作　　者：魏景景[1] 司倩倩 倪俊[2] 魏妍平[2] 钱敏[2] WEI Jingjing;SI Qianqian;NI Jun(Department of Neurology,The People's Hospital of Jiaozuo,Jiaozuo 454002,China)

机构地区：[1]河南省焦作市人民医院神经内科,河南焦作454002 [2]中国医学科学院北京协和医院神经科,北京100730

出　　处：《中风与神经疾病杂志》2023年第10期942-945,共4页Journal of Apoplexy and Nervous Diseases

摘　　要：目的探讨晚发型甲基丙二酸尿症合并同型半胱氨酸血症的临床及基因变异特点。方法回顾性分析1例MMACHC基因突变致晚发型cblC型甲基丙二酸尿症合并同型半胱氨酸血症患者的临床资料及基因检测结果,并结合文献讨论。结果本例男性患者,以双足麻木起病,逐渐出现双下肢僵硬无力,发病前有非特异性精神行为异常症状,此次就诊经基因检测发现MMACHC基因4号外显子存在c.482G>A(p.Arg161Gln)错义突变,与文献报道c.482G>A复合杂合突变不同,本例患者突变类型为纯合突变。结论甲基丙二酸尿症合并同型半胱氨酸血症的临床异质性较大,容易漏诊误诊,当出现不明原因的精神行为异常时应考虑该诊断,基因检测是诊断的重要依据,同时也可指导该病的分型。Objective To investigate the clinical characteristics and gene mutations of late-onset methylmalonic ac-iduria with homocysteinemia.Methods We retrospectively analyzed the clinical data and genetic test result of one pa-tient with late-onset cblC-type methylmalonic aciduria with homocysteinemia arising from MMACHC gene mutation.Relevant literature was reviewed.Results This male patient initially presented with numbness in both feet,and gradually developed stiffness and weakness in both lower limbs,with nonspecific mental and behavioral symptoms before onset.Gene testing de-tected a missense mutation,c.482G>A(p.Arg161Gln)in exon 4 of the MMACHC gene.It was a homozygous mutation,which was different from compound heterozygous mutations of c.482G>A reported in previous literature.Conclusion Methylmalonic aciduria with homocysteinemia is clinically heterogeneous,with a high possibility of a missed diagnosis or misdiagnosis.The diagnosis should be considered in the presence of mental and behavioral abnormities of unknown cause.Gene detec-tion is an important basis for the diagnosis and typing of the disease.

关 键 词：甲基丙二酸尿症 同型半胱氨酸血症 晚发型 MMACHC基因 cblC型 

分 类 号：R596[医药卫生—内科学]