新生儿期急性发病的遗传性代谢病 (IMD)若没有获得产前的诊断 ,常常因难以得到及时准确的诊断及早期救治而死亡 ,或遗留严重的神经系统后遗症。代谢底物、中间产物堆积和终产物的减少是导致机体损害的根本原因。根据其对细胞影响的结果可将IMD分为 :细胞中毒型、能量缺陷型及混 In the neonatal period, the hereditary metabolic disease (IMD), which is an acute disease, is often diagnosed without adequate prenatal diagnosis, often with poor diagnosis and early treatment, or with serious neurological sequelae. Metabolic substrates, intermediate product accumulation and the reduction of end products are the underlying causes of damage to the body. According to their effects on the cells can be divided into IMD: cell poisoning, energy deficiency and mixed