老年期起病的甲基丙二酸血症一例  

A case report of senile-onset methylmalonic acidemia

作　　者：肖蓓蕾 袁冬娟 王丽琴[1] 刘琳[1] 温雅[1] 田新英[1] Xiao Beilei;Yuan Dongjuan;Wang Liqin;Liu Lin;Wen Ya;Tian Xinying(Department of Neurology,the Second Hospital of Hebei Medical University,Shijiazhuang 050000,China)

机构地区：[1]河北医科大学第二医院神经内科,河北省神经病学重点实验室,石家庄050000

出　　处：《脑与神经疾病杂志》2020年第6期341-344,共4页Journal of Brain and Nervous Diseases

摘　　要：目的探讨老年期起病的甲基丙二酸血症(MMA)患者的临床及遗传学特点、诊治、预后。方法分析1例老年期起病MMA患者的临床资料。结果患者68岁起病,血同型半胱氨酸(Hcy)值111.1μumol·L-1,头颅MRI示脑萎缩和双侧侧脑室周围白质T2高信号,颈椎MRI示颈髓内条片状长T2异常信号,轴位局部呈倒“V”字形,血尿代谢筛查提示MMA。结论MMA老年起病罕见。对于脊髓亚急性联合变性伴多系统多部位损害的成年患者,同时血Hcy增高时,应想到MMA可能。血尿代谢筛查及基因检测有助于早期诊断、指导治疗。Objective To investigate the clinical and genetic diagnosis and treatment,prognosis of elderly patients with methylmalonic acidemia(MMA).Methods The clinical data of 1 elderly-onset patient with MMA was analyzed.Results The patient started at the age of 68,homocysteine(Hcy)was 111.1μmol·L-1,brain MRI showed brain atrophy and high signal of white matter T2 around the bilateral lateral ventricles,cervical vertebra MRI showed a long T2 abnormal signal in the cervical spinal cord,the axial position was partially inverted V-shaped,and screening for hematuria revealed MMA.Conclusion MMA is rare in old age.For adult patients with subacute combined degeneration of the spinal cord with multiple system and multiple site lesions,and an abnormal increase in Hcy at the same time,MMA Should be considered.Hematuria metabolism screening and genetic testing are helpful for early diagnosis and guidance of treatment.

关 键 词：甲基丙二酸血症 脊髓亚急性联合变性 高同型半胱氨酸血症 血串联质谱检测 尿气相色谱质谱检测 晚发型 

分 类 号：R589.9[医药卫生—内分泌]