遗传性代谢疾病的研究进展

遗传性代谢疾病（IMD）是指由于基因突变引起酶缺陷、细胞膜功能异常或受体缺陷,致使体内相应的代谢产物不能正常代谢而出现相应的病理和临床症状的一组疾病。其临床表现复杂多样,体内任何器官系统均可受累,常导致早期夭折或终身残疾。产前诊断及新生儿筛查对其早期诊断具有重要意义;常规生化检测可为诊断提供重要线索;DNA芯片技术有望成为群体筛查的方法;过氧化物酶体增殖物激活受体（PPAR）的研究将为此类疾病的药物基因治疗另辟蹊径。

Advance in the research of inherited metabolic diseases

Inherited metabolic diseases （IMD） can result from gene mutations in the form of dysfunction of an enzyme or other protein involved in cellular metabolism, which ultimately leads to the progressive accumulation of metabolites in tissues and body fluids. IMD are complex relatively uncommon medical conditions resulting in significant morbidity and mortality. Routine biochemical test is an important element in the diagnosis. Newborn screening and prenatal diagnosis play an significant role in preventive public health. DNA chip technology as the most advanced method would be hopeful in the newborn screening. Peroxisome proliferator activated receptors （PPAR） molecular regulation pathway as a promising new method has been developed, the implementation of which will have a profound effect on the treatment of IMD.