以周围神经病为主要表现的成人cbc1型甲基丙戊二酸血症一例  

A Case of Adult cbc1 Type Methylmalonic Acidemia with Peripheral Neuropathy as the Main Manifestation

作　　者：张濛文 孙妍萍[1] 

机构地区：[1]青岛大学附属医院神经内科,山东 青岛

出　　处：《临床医学进展》2024年第5期1303-1311,共9页Advances in Clinical Medicine

摘　　要：甲基丙二酸血症(methylmalonic acidemia, MMA)是一种罕见的常染色体隐性遗传病,其中cblC型MMA最为常见,是因MMACHC基因突变造成编码cblC蛋白缺陷所致。MMA最常见于少儿期,成人发病罕见。鉴于该病临床表现异质性较高且特异性差,在实际临床工作中易出现误诊和漏诊。现报告1例以周围神经病变起病的成人cblC型MMA并做文献复习,为临床上诊断和治疗该疾病提供参考。Methylmalonic acidemia (MMA) is a rare autosomal recessive genetic disease, among which cblC type MMA is common, caused by the deficiency of cblC protein encoded by MMACHC gene mutation. MMA is the most common in children and rarely occurs in adults. Given the high heterogeneity and poor specificity of the clinical manifestations of this disease, it is easy to be misdiagnosed and misdiagnosed in practical clinical work. A case of adult cblC MMA with peripheral neuropathy onset is reported and the literature is reviewed to provide reference for clinical diagnosis and treatment of this disease.

关 键 词：甲基丙戊二酸血症 周围神经病 高同型半胱氨酸血症 MMACHC 

分 类 号：R73[医药卫生—肿瘤]