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苯丙酮尿症及相关治疗方法研究进展
苯丙酮尿症及相关治疗方法研究进展
牛瑞青,冯文化

中国医学科学院北京协和医学院药物研究所,北京 100050
Research progress of phenylketonuria and its releveant treatment
(Institute of Materia Medica, Chinese Academy of Medical Scienence & Peking Union Medical College, Beijing 100050, China)

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起始页:154

摘要:[摘要] 苯丙酮尿症(phenylketonuria, PKU)为常染色体隐性遗传病,因肝脏中苯丙氨酸羟化酶(phenylalanine hydroxylase, PAH)缺乏或活性不足或其辅酶四氢生物蝶呤(tetrahydrobiopterin, BH4)缺乏,导致苯丙氨酸(phenylalanine, Phe)不能按正常的代谢途径转化为酪氨酸,在体内蓄积而致病。如果该病得不到及时治疗,会对患者中枢神经系统造成严重的损伤。PKU的治疗方法通过限制人体苯丙氨酸摄入或者补充四氢生物蝶呤使患者体内苯丙氨酸浓度恢复正常水平。目前,该病已被各国列为新生儿必须筛查的代谢疾病之一。本文综述了苯丙酮尿症的发病机制、临床分类及表现以及目前存在和潜在的治疗方法的研究进展。

关键词:[关键词] 苯丙酮尿症;苯丙氨酸羟化酶;发病机制;临床分类;治疗方法

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Abstract:[Abstract] Phenylketonuria (PKU) is an autosomal recessive disorder. The deficiency in the number or activity of phenylalanine hydroxylase (PAH) or the insufficiency of its cofactor tetrahydrobiopterin (BH4), results in the inability to convert phenylalanine to tyrosine, leading to an increased concentration of phenylalanine in blood. If untreated timely, PKU can cause severe damage to central nervous system. So neonatal screening is very important to avoid intellectual disability. The primary management of PKU is to restrict intake of phenylalanine or supplement tetrahydrobiopterin. This article reviews the pathogenesis, clinical classification, symptoms, and current and future treatment to phenylketonuria. 

Key words:[Key words] phenylketonuria;phenylalanine hydroxylase (PAH); pathogenesis;clinical classification;treatment

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