摘要遗传代谢性疾病（IMD）又称先天性代谢缺陷，从发病率来看IMD属于罕见病，虽单一病种发生率均较低，但作为一类疾病的群体患病率较高。迄今发现的IMD疾病有700多种，并随着分子诊断技术的提高而逐步增加。由于IMD受累基因多，临床症状复杂多样，且不具有特异性，对IMD的准确诊断存在很多困难和挑战。本文就IMD发生的分子基础、疾病诊断思路、检测手段及其在临床应用中存在的问题进行阐述。

abstractsInherited metabolic disorders (IMD), also known as inborn errors of metabolism, is a rare disease in terms of incidence rate. The incidence of single disease is relatively low. However, the prevalence rate is higher as a group of diseases. So far, more than 700 kinds of IMD diseases have been found with the gradually increase improvement of molecular diagnosis technology. There are many difficulties and challenges in the accurate diagnosis of IMD due to the variety of IMD involved genes, the complexity of clinical symptoms and the lack of specificity. In this paper, the molecular basis, the idea to diagnosis, the detection methods and problems in clinical application with IMD will be discussed.