猝死是指貌似健康的人,因潜在某种器质性疾病或功能障碍所引起的急速、意外的自然死亡。遗传代谢病是因维持机体正常代谢所必需的某种酶、运载蛋白、膜或受体等的编码基因突变而出现相应的病理和临床症状的一类疾病,其中有机酸代谢障碍、氨基酸代谢病、尿素循环障碍、糖代谢异常、脂质沉积病、线粒体病等均可导致猝死,共同特点为安定期无症状或仅有一些非特异性症状,在某种诱因刺激下急性发病,直接死因可能为低血糖、能量合成障碍、高氨血症、异常代谢产物的急性中毒、血管栓塞等。若治疗合理,患者可有效缓解。对于病因不明的濒死患者应保存尿、血标本或组织,以争取死亡后的诊断。 Sudden death refers to seemingly healthy, due to a potential organic disease or dysfunction caused by rapid, unexpected natural death. Genetic metabolic disease is due to maintain normal metabolism of the body necessary for a certain enzyme, carrier protein, membrane or receptor gene mutations and the corresponding pathological and clinical symptoms of a class of diseases, including organic acid metabolism, amino acid metabolism , Urea cycle disorders, abnormal glucose metabolism, lipid deposition disease, mitochondrial disease can lead to sudden death, the common characteristics of asymptomatic asymptomatic or only some non-specific symptoms, the acute onset of stimulation in a certain incentive, the direct cause of death may be Hypoglycemia, energy synthesis disorders, hyperammonemia, acute poisoning of abnormal metabolites, vascular embolism and the like. If treated properly, patients can effectively alleviate. Urine, blood specimens or tissues should be kept for dying patients with unknown etiology in order to obtain a diagnosis after death.