指南
医学
入射(几何)
新生儿筛查
儿科
高苯丙氨酸血症
氨基酸代谢
医学遗传学
疾病
苯丙酮尿症
临床实习
先天性代谢错误
重症监护医学
苯丙氨酸
内科学
家庭医学
病理
遗传学
氨基酸
新陈代谢
生物
物理
光学
基因
作者
Writing Group For Practice Guidelines For Diagnosis And Treatment Of Genetic Diseases Medical …,Shangzhi Huang,Fang Song
出处
期刊:PubMed
日期:2020-03-10
卷期号:37 (3): 226-234
被引量:6
标识
DOI:10.3760/cma.j.issn.1003-9406.2020.03.002
摘要
Phenylketonuria (PKU) is an autosomal recessive hereditary disease and a common disorder of amino acid metabolism. The average incidence of PKU in China is approximately 1/11 000. It is characterized by lower incidence in the South and higher incidence in the North, particularly the Northwest. PKU is a treatable disease and has been listed in the national newborn screening program. Neonates with positive indication of screening can achieve satisfactory therapeutic effect by timely control of phenylalanine intake after the definite diagnosis. This guideline aims to summarize the knowledge of medical genetics and key points of clinical management of PKU, so as to improve the diagnostic level and standardize newborn screening and clinical treatment of patients.
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