关键词: 遗传代谢病, 常见病, 误诊, 精准治疗

Abstract: There are various kinds of inherited metabolic disorders and the manifestations are non-specific，diversified and individualized. They can mimic different diseases and are easily misdiagnosed or with missed diagnosis. Many organs can be impaired by inherited metabolic disorders，resulting in neurological or psychiatric diseases，cardiovascular diseases，renal diseases，hepatic diseases，hematologic diseases，skin diseases and bone diseases. The clinical diagnosis is difficult and relies on special biochemical tests and genetic analysis. Therefore，for the patients with a condition whose clinical symptoms and laboratory examinations cannot be explained or those who get an unsatisfied treatment outcome，a further investigation into the causes is needed to reduce the misdiagnosis，so that precise treatment can be performed and prognosis be improved.

Key words: inherited metabolic disorders, common disease, misdiagnosis, precise treatment