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浙江大学学报（医学版）
浙江大学学报（医学版）  2018, Vol. 47 Issue (3): 219-226    DOI: 10.3785/j.issn.1008-9292.2018.06.01
专题报道     
高苯丙氨酸血症表型与基因型研究进展
陈挺1(),赵正言2,蒋萍萍3,舒强1,*()
1. 浙江大学医学院附属儿童医院心胸外科, 浙江 杭州 310052
2. 浙江大学医学院附属儿童医院遗传代谢科, 浙江 杭州 310052
3. 浙江大学遗传学研究所, 浙江 杭州 310058
Research progress on phenotype and genotype of hyperphenylalaninemia
CHEN Ting1(),ZHAO Zhengyan2,JIANG Pingping3,SHU Qiang1,*()
1. Department of Cardiovascular and Thoracic Surgery, the Children's Hospital, Zhejiang University School of Medicine, Hangzhou 310052, China
2. Department of Genetics and Metabolic Diseases, the Children's Hospital, Zhejiang University School of Medicine, Hangzhou 310052, China
3. Institute of Genetics, Zhejiang University, Hangzhou 310058, China
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摘要：

高苯丙氨酸血症（HPA）是最常见的先天性、常染色体隐性遗传的氨基酸代谢病，由苯丙氨酸羟化酶（PAH）或辅酶四氢生物蝶呤（BH4）缺乏所致，并受基因调控。HPA临床数据与基因信息是疾病诊断、治疗和预防的宝贵资源，信息的有效积累将推动HPA诊治更加及时和准确，为制订个性化的诊疗方案提供新手段。本文总结了HPA代谢途径与蛋白PAH和BH4的关联、HPA的致病基因及其分布、HPA的基因型与表型的关系，为HPA的个性化治疗提供参考。
关键词： 苯丙酮尿症/遗传学;  苯丙氨酸羟化酶;  生物蝶呤/代谢;  表型;  基因型;  综述    
Abstract:

Hyperphenylalaninemia(HPA), an autosomal recessive disease, is the most common inborn error of amino acid metabolism, caused by the deficiency of phenylalanine hydroxylase(PAH) or tetrahydrobiopterin(BH4) which induced by mutations of genes. The accumulation of the clinical database and genetic information will enhance the development of novel personalized medicine and to provide more accurate and timely diagnostic and therapeutic approaches for HPA. This paper summarizes the correlations between HPA metabolism and PAH, BH4, pathogenic genes and their distributions in HPA, as well as the phenotypes and genotypes of HPA, so as to provide reference for personalized medicine for HPA.
Key words: Phenylketonurias/genetics    Phenylalanine hydroxylase    Biopterin/metabolism    Phenotype    Genotype    Review
收稿日期: 2018-03-23 出版日期: 2018-09-18
CLC:  R722.11  
基金资助: 国家重点研发计划(2017YFC1001703);浙江省医药卫生重大科技项目(WKJ-ZJ-1704);浙江省卫生高层次人才培养工程(2016-6)
通讯作者: 舒强     E-mail: 11718194@zju.edu.cn;shuqiang@zju.edu.cn
作者简介: 陈挺(1994-), 男, 博士研究生, 主要从事遗传代谢病研究; E-mail: 11718194@zju.edu.cn; https://orcid.org/0000-0002-0530-675X
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引用本文:

陈挺,赵正言,蒋萍萍,舒强. 高苯丙氨酸血症表型与基因型研究进展[J]. 浙江大学学报（医学版）, 2018, 47(3): 219-226.

CHEN Ting,ZHAO Zhengyan,JIANG Pingping,SHU Qiang. Research progress on phenotype and genotype of hyperphenylalaninemia. J Zhejiang Univ (Med Sci), 2018, 47(3): 219-226.

链接本文:

http://www.zjujournals.com/med/CN/10.3785/j.issn.1008-9292.2018.06.01    或    http://www.zjujournals.com/med/CN/Y2018/V47/I3/219

图 1  苯丙氨酸羟化酶、辅酶四氢生物蝶呤与苯丙氨酸代谢
图 2  PAH基因突变体在全基因中的分布(数据来源：PAHvdb数据库)
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