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本文引用的文献

1
Molecular genetics of tetrahydrobiopterin deficiency in Chinese patients.中国患者四氢生物蝶呤缺乏症的分子遗传学
J Pediatr Endocrinol Metab. 2018 Aug 28;31(8):911-916. doi: 10.1515/jpem-2018-0037.
2
Spectrum of PAH gene variants among a population of Han Chinese patients with phenylketonuria from northern China.中国北方汉族苯丙酮尿症患者群体中PAH基因变异谱
BMC Med Genet. 2017 Oct 5;18(1):108. doi: 10.1186/s12881-017-0467-7.
3
Heterogeneous clinical spectrum of DNAJC12-deficient hyperphenylalaninemia: from attention deficit to severe dystonia and intellectual disability.DNAJC12 缺乏所致高苯丙氨酸血症的异质性临床谱：从注意力缺陷到严重肌张力障碍和智力残疾。
J Med Genet. 2017 Aug 9. doi: 10.1136/jmedgenet-2017-104875.
4
The Predictive Value of Genetic Analyses in the Diagnosis of Tetrahydrobiopterin (BH4)-Responsiveness in Chinese Phenylalanine Hydroxylase Deficiency Patients.遗传分析在诊断中国苯丙氨酸羟化酶缺乏症患者四氢生物蝶呤（BH4）反应性中的预测价值。
Sci Rep. 2017 Jul 28;7(1):6762. doi: 10.1038/s41598-017-06462-y.
5
Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability.DNAJC12基因的双等位基因突变导致高苯丙氨酸血症、肌张力障碍和智力残疾。
Am J Hum Genet. 2017 Feb 2;100(2):257-266. doi: 10.1016/j.ajhg.2017.01.002. Epub 2017 Jan 26.
6
In vitro residual activity of phenylalanine hydroxylase variants and correlation with metabolic phenotypes in PKU.苯丙酮尿症中苯丙氨酸羟化酶变体的体外残余活性及其与代谢表型的相关性
Gene. 2016 Dec 5;594(1):138-143. doi: 10.1016/j.gene.2016.09.015. Epub 2016 Sep 13.
7
Four Years of Diagnostic Challenges with Tetrahydrobiopterin Deficiencies in Iranian Patients.伊朗患者四氢生物蝶呤缺乏症的四年诊断挑战
JIMD Rep. 2017;32:7-14. doi: 10.1007/8904_2016_572. Epub 2016 Jun 1.
8
Genetics of Phenylketonuria: Then and Now.苯丙酮尿症的遗传学：过去与现在
Hum Mutat. 2016 Jun;37(6):508-15. doi: 10.1002/humu.22980. Epub 2016 Mar 18.
9
First structure of full-length mammalian phenylalanine hydroxylase reveals the architecture of an autoinhibited tetramer.全长哺乳动物苯丙氨酸羟化酶的首个结构揭示了一种自抑制四聚体的结构。
Proc Natl Acad Sci U S A. 2016 Mar 1;113(9):2394-9. doi: 10.1073/pnas.1516967113. Epub 2016 Feb 16.
10
Molecular characterisation of phenylketonuria in a Chinese mainland population using next-generation sequencing.利用新一代测序技术对中国大陆人群苯丙酮尿症进行分子特征分析。
Sci Rep. 2015 Oct 27;5:15769. doi: 10.1038/srep15769.

[高苯丙氨酸血症的表型与基因型研究进展]

[Research progress on phenotype and genotype of hyperphenylalaninemia].

作者信息

Chen Ting, Zhao Zhengyan, Jiang Pingping, Shu Qiang

机构信息

Department of Cardiovascular and Thoracic Surgery, the Children's Hospital, Zhejiang University School of Medicine, Hangzhou 310052, China.

Department of Genetics and Metabolic Diseases, the Children's Hospital, Zhejiang University School of Medicine, Hangzhou 310052, China.

出版信息

Zhejiang Da Xue Xue Bao Yi Xue Ban. 2018 May 25;47(3):219-226. doi: 10.3785/j.issn.1008-9292.2018.06.01.

DOI:10.3785/j.issn.1008-9292.2018.06.01
PMID:30226320
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10393690/
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.

摘要

高苯丙氨酸血症（HPA）是一种常染色体隐性疾病，是最常见的氨基酸代谢先天性缺陷，由苯丙氨酸羟化酶（PAH）或因基因突变诱导产生的四氢生物蝶呤（BH4）缺乏所致。临床数据库和遗传信息的积累将推动新型个性化药物的研发，并为HPA提供更准确、及时的诊断和治疗方法。本文总结了HPA代谢与PAH、BH4、致病基因及其在HPA中的分布之间的相关性，以及HPA的表型和基因型，以便为HPA的个性化医疗提供参考。