遗传代谢病诊疗新进展及面临的新挑战

The recent advances and challenges in diagnosis and therapy of inherited metabolic disorders

遗传代谢病(inherited metabolic disorders,IMD)是一类由细胞核基因或线粒体DNA突变所引起的以细胞生化功能破坏为特征的先天性代谢紊乱。近年来,随着生化分析、酶学及基因技术的发展,使得更多的IMD明确病因,有助于开发新的药物及进行基因治疗,但与此同时也带来很多新的挑战。本文对目前IMD诊疗所面临的新进展及新挑战进行述评,以提高医务人员对遗传代谢病诊断、治疗和预防的认知。

Inherited metabolic disorder(IMD)is a class of genetic disorders characterized by disruption of cellular biochemical functions caused by mutation in genomic or mitochondrial DNA. Recently,the advances in technology of biochemistry and enzyme and gene have led to significant progress in detection and treatment such as new disorders and disease are described regularly and targeted drugs and gene therapy are explored. In this article, the recent advances and challenges about diagnosis and treatment to facilitate medical workers the better and more comprehensive understanding of IMD will be reviewed.