论文部分内容阅读
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。
Hereditary metabolic diseases (IMD) refers to a group of diseases in which the corresponding metabolites in the body can not be metabolized and the corresponding pathological and clinical symptoms appear due to enzyme defects, cell membrane dysfunction or receptor defects caused by gene mutation. Its complex and diverse clinical manifestations, any organ system may be involved, often leading to early death or life-long disabilities. Prenatal diagnosis and neonatal screening for its early diagnosis of great significance; routine biochemical tests can provide important clues to diagnosis; DNA chip technology is expected to be a screening method; peroxisome proliferator-activated receptor (PPAR) Research will open a new avenue for drug gene therapy for these diseases.