伴发脑梗死的成人晚发型戊二酸尿症Ⅰ型1例报告(附临床表现、影像学、生化和基因改变)  

An adult late-onset glutaric aciduria type Ⅰ with cerebral infarctions

作　　者：陈静[1] 陈靖[1] 张巍[1] 王朝霞[1] 黄一宁[1] 

机构地区：[1]北京大学第一医院神经内科,北京100034

出　　处：《中风与神经疾病杂志》2011年第3期200-203,共4页Journal of Apoplexy and Nervous Diseases

摘　　要：目的报告1例经生化和致病基因分析而确诊的成人晚发型戊二酸尿症I型(GA-1)患者,探讨其临床、影像学特点,分析其脑梗死与戊二酸尿症I型之间的相关性,并进行治疗后的随访。方法 1例51岁脑梗死患者,报告其临床经过、生化特点和头部核磁共振改变。血液和尿液生化检查包括气相色谱/质谱分析法检测尿有机酸、串联质谱联用法检测血液氨基酸/酯酰肉碱谱。提取患者及其父母的外周血DNA,进行戊二酰辅酶A脱氢酶编码基因(glutaryl CoA dehydrogenase,GCDH)的突变分析。并观察患者在治疗前后临床、生化、尿有机酸及血液酯酰肉碱谱分析等方面的变化。结果该患者以脑梗死起病,头部MR I示右侧大脑半球多发脑梗死,双外侧裂明显增宽,双侧颞叶前部蛛网膜囊肿,轻度皮质萎缩。尿有机酸分析检出大量戊二酸和3-羟基戊二酸,GCDH基因检测发现为复合杂合性突变(G178E和R402Q),确诊为戊二酸尿症I型。同时发现患者血液中同型半胱氨酸水平增高、游离肉碱和多种酯酰肉碱水平显著降低。治疗后血同型半胱氨酸水平接近正常,尿有机酸分析戊二酸浓度较前显著增高,血液酯酰肉碱谱分析结果较治疗前明显好转。结论尽管戊二酸尿症I型多于婴幼儿期发病,但也存在非常罕见的成人晚发型。戊二酸尿症I型可能是造成脑梗死的因素之一。在成人卒中患者中,如果没有发现其他卒中相关危险因素,必要时应进行代谢障碍筛查以除外代谢性疾病。Objective To report an adult late-onset glutaric aciduria type Ⅰ diagnosed by biochemistry and gene detection about his clinical and imaging data,the relationship between cerebral infarctions and GA-1 ,and follow up after treatment. Methods We reported the clinical,biochemistry and imaging characters of the 51-year-old patient with cerebral infarctions. The patient and his parents were detected for the mutations of GCDH. The changes after treatment were compared. Results The diagnosis was definite through gene detection. At the same time he had high level of homocysteine, low level of free carnitine and many kinds of fatty acyl carnitine in serum. After treatment, all the abnormality were improved. Conclusions Glutarie aciduria type Ⅰ is a severe inborn dysmetabolism, and it may be present at adults. If a stroke patient without routine risk factorsshows any special manifestations,we should think of GA-1 and proceed next exami- nations to avoid the wrong diagnosis.

关 键 词：戊二酸尿症I型 成人晚发型 核磁共振(MRI) 尿有机酸分析 血液酯酰肉碱谱分析 基因突变 

分 类 号：R743[医药卫生—神经病学与精神病学]