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先天性代谢缺陷是Garrod在1908年命名的。从五十年代开始,这项研究工作就蓬勃开展,所发现的病例日益增多,并在发病机理、临床表现、诊断和治疗等方面渐趋深入。近10年来,由于基础科学的突飞猛进和新技术的应用,先天性代谢缺陷已超越了它仅是疾病的范畴。随着对传染疾病获得防治和控制,生活和医疗条件的不断改善和医学卫生知识的普及,这类疾病象先天性畸形那样,在婴幼儿发病率和死亡率方面渐形突出。本文简要综述其有关基本概念、临床概况和进展。
The congenital metabolic defect was named Garrod in 1908. Since the 1950s, the research work has been booming, with an increasing number of cases found, and its pathogenesis, clinical manifestations, diagnosis and treatment are gradually deepening. In the past 10 years, as a result of the rapid advances in basic science and the application of new technologies, congenital metabolic defects have surpassed its mere disease category. With the prevention and control of communicable diseases, the continuous improvement of living and medical conditions and the popularization of medical and health knowledge, these diseases, like those of congenital malformations, are prominently highlighted in infant morbidity and mortality. This article briefly summarizes its basic concepts, clinical status and progress.