据估计,遗传性代谢病(以下简称代谢病)已有4000种左右,临床上少数常见,多数罕见。共同特征为:(1)大部分为单基因病,以酶缺陷为主,故常引起代谢障碍,致必需代谢产物缺乏,异常或不全代谢产物贮积,造成器官功能失常;(2)有明显遗传性, It is estimated that hereditary metabolic disease (hereinafter referred to as metabolic disease) has about 4,000, a small number of clinically common, most rare. Common features are: (1) most of the single gene disease, mainly enzyme defects, often cause metabolic disorders, resulting in the lack of metabolites, abnormal or incomplete metabolites, resulting in organ dysfunction; (2) there is a clear genetic Sexuality,