Yu Chunli, Scott C Ronald
Laboratory of Biochemical Genetics, Emory University, Decatur, GA 30033, USA.
J Zhejiang Univ Sci B. 2006 Feb;7(2):165-6. doi: 10.1631/jzus.2006.B0165.
Inborn errors of metabolism (IEM) include a broad spectrum of defects of various gene products that affect intermediary metabolism in the body. Studying the molecular and biochemical mechanisms of those inherited disorder, systematically summarizing the disease phenotype and natural history, providing diagnostic rationale and methodology and treatment strategy comprise the context of human biochemical genetics. This session focused on: (1) manifestations of representative metabolic disorders; (2) the emergent technology and application of newborn screening of metabolic disorders using tandem mass spectrometry; (3) principles of managing IEM; (4) the concept of carrier testing aiming prevention. Early detection of patients with IEM allows early intervention and more options for treatment.
先天性代谢缺陷（IEM）包括影响身体中间代谢的各种基因产物的广泛缺陷。研究这些遗传性疾病的分子和生化机制，系统总结疾病表型和自然史，提供诊断依据、方法和治疗策略，构成了人类生化遗传学的内容。本次会议聚焦于：（1）代表性代谢紊乱的表现；（2）串联质谱技术在新生儿代谢紊乱筛查中的应用及新兴技术；（3）IEM的管理原则；（4）以预防为目的的携带者检测概念。IEM患者的早期检测可实现早期干预并提供更多治疗选择。
