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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。
Methyl malonate is a common organic acidosis, is an autosomal recessive disease, clinical manifestations of non-specific vomiting and lethargy, seizures and other neurological symptoms based. Diagnostics rely on tandem mass spectrometry for blood acylcarnitine and gas chromatography-mass spectrometry for urinary methylmalonic acid. For children with homocysteine, the treatment of vitamin B_ (12), betaine and L-carnitine-based; for children without homocysteine to limit the natural protein intake, Given to remove isoleucine, valine, methionine and threonine special milk powder and L-carnitine treatment based. Vitamin B_ (12) treatment effective type prognosis is better, the treatment of ineffective prognosis is poor.