摘要
苯丙酮尿症(PKU)又称高苯丙氨酸血症,是常见的单基因遗传病,是一种由功能性苯丙氨酸羟化酶(PAH)缺乏引起的先天性代谢障碍,导致患者血液和器官中苯丙氨酸(Phe)的积累。患者会出现严重的发育迟缓、神经功能缺陷和行为异常等特征。苯丙酮尿症早期筛查,能够让更多的患儿得到早期诊断,进而更早地接受治疗,最大程度上减轻苯丙氨酸对神经系统的损害。本文综述了其遗传方式、病因机制、目前预防和治疗的措施。
Phenylketonuria (PKU), also known as hyperphenylalaninemia, is a common single-gene genetic disease. It is a congenital metabolic disorder caused by the lack of functional phenylalanine hydroxylase (PAH), leading to the accumulation of phenylalanine (Phe) in the blood and organs of patients. Patients will have severe developmental retardation, neurological deficits and behavioral abnormalities. Early screening of phenylketonuria can enable more children to receive early diagnosis and treatment earlier, and minimize the damage of phenylalanine to the nervous system. This article reviews its genetic mode, pathogenesis, current prevention and treatment measures.
出处
《生物医学》
2023年第3期326-333,共8页
Hans Journal of Biomedicine
