甲基丙二酸血症诊治研究进展  

Progresses of diagnosis and therapy in methylmalonic acidemia

作　　者：王斐[1] 韩连书[1] 

机构地区：[1]上海交通大学医学院附属新华医院上海市儿科医学研究所内分泌遗传代谢病研究室,上海200092

出　　处：《临床儿科杂志》2008年第8期724-727,共4页Journal of Clinical Pediatrics

基　　金：十一五国家科技支撑计划课题(No.2006AB105A05;No.2006BA105A07);上海市卫生局科研课题(No.2006043);国家高技术发展计划(No.2007AA02Z447)

摘　　要：甲基丙二酸血症是一种常见的有机酸血症,属于常染色体隐性遗传病,临床表现无特异性,以反复呕吐及嗜睡、惊厥等神经系统症状为主。诊断依靠串联质谱检测血中的酰基肉碱和气相色谱-质谱检测尿甲基丙二酸。对伴有同型半胱氨酸血症患儿,治疗以维生素B_(12)、甜菜碱和左旋肉碱为主;对不伴有同型半胱氨酸血症患儿以限制天然蛋白质摄入,给予去除异亮氨酸、缬氨酸、甲硫氨酸和苏氨酸的特殊奶粉及左旋肉碱治疗为主。维生素B_(12)治疗有效型预后较好,治疗无效型预后较差。Methylmalonie acidemia is an organic acidemia with autosomal recessive heredity, of which the cli- nical presentations are heterogeneous. It is characterized by recurrent vomiting and the neurological symptoms such as lethargy, convulsion, and so on. Diagnosis of this disease depends on the measurement of acylcarnitines in the blood by tandem mass spectrometry and the detection of methylmalonic acid in the urine by gas-chromatography mass spectrome- try. The patients with methylmalonic acidemia and homocystinuria should be mainly treated with vitamin B^2, betaine and L-carnitine, while the patients with isolated methymalonic acidemia should be treated with protein restriction, the special milk formula without isoleucine, valine, methionine and threonine, as well as the L-carnitine. Compared with the vitamin B12-nonresponsive patients, the vitamin B12-responsive ones have better outcome.

关 键 词：甲基丙二酸血症 诊断 治疗 

分 类 号：R725.8[医药卫生—儿科]