Abstract: The inherited metabolic disorders are caused by the gene mutation in the human body. The gene mutation leads to the functional defects in the enzymes，coenzymes，transporters，membranes and receptors，which cause the corresponding pathological damage to many systems of the body. To reduce the morbidity and mortality，the patients with inherited metabolic disorders should get early screening，early diagnosis，and early treatment. Probiotics，as a living microorganism beneficial to human health，can be used either directly or indirectly to treat the patients with inherited metabolic disorders. In clinical practice，it is appropriate and effective to utilize probiotics in conjunction with other forms of therapy.

Key words: probiotics, microorganism, inherited metabolic disorders

摘要： 遗传代谢病是一类严重疾病，由于基因突变导致维持人体正常代谢所必需的酶、辅酶、转运蛋白、膜或受体等发生功能缺陷，从而引发全身多系统的病理损害。对于遗传代谢病，应争取早筛查、早诊断、早干预治疗，以最大限度降低致残率和病死率。益生菌是一类对人体有益的活的微生物，可以通过直接或间接的方式对遗传代谢病患者进行治疗，配合其他临床技术，合理应用益生菌是有效的方法。

关键词: 益生菌, 微生物, 遗传代谢病