高苯丙氨酸血症表型与基因型研究进展

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。
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