·1JOURNALOFRAREANDUNCOMMONDISEASES,AUG.2023,Vol.30,No.8,TotalNo.169【第一作者】杨君，女，副主任医师，主要研究方向：脑血管病及疑难病。E-mail：yangjun6169@163.com【通讯作者】冯勋刚，男，主任医师，主要研究方向：脑血管病及疑难病。E-mail：jyfyfxg@163.com·综述·成人苯丙酮尿症杨君吴昭英张丽丽王玉忠冯勋刚*济宁医学院附属医院神经内科(山东济宁272029)【摘要】苯丙酮尿症是一种氨基酸代谢异常的常染色体隐性遗传代谢病，由于基因突变使苯丙氨酸羟化酶缺乏或四氢生物喋呤酶缺乏引起，多见于儿童患者，苯丙氨酸在血液中浓度增高，引起中枢神经系统损伤，导致智力发育落后，新生儿筛查可早期诊断，低苯丙氨酸饮食有效。成人PKU临床特征不典型，易被忽视，报道较少，近年来随着质谱技术、核磁共振及基因检测等的发展，神经内科医生对PKU的的认识不断提高，本文复习文献就目前PKU尤其成人PKU的有关问题做一综述。【关键词】苯丙酮尿症；成年人；质谱；磁共振成像；基因【中图分类号】R589【文献标识码】ADOI:10.3969/j.issn.1009-3257.2023.08.001AdultPhenylketonuriaYANGJun,WUZhao-ying,ZHANGLi-li,WANGYu-zhong,FENGXun-gang*.DepartmentofNeurology,TheAffiliatedHospitalofJiningMedicalUniversity,Jining272029,ShandongProvince,ChinaAbstract:Phenylketonuriaisanautosomalrecessiveinheritedmetabolicdiseasewithdisordersofaminoacidmetabolism,whichiscausedbygenemutations,phenylalaninehydroxylaseortetrahydrobiopterindeficiency,morecommoninchildren.Bloodphenylalanineconcentrationsareincreased,resultingindamagetothecentralnervoussystem.Thisbraindysfunctioncausesintellectualretardation.Earlydiagnosisisbasedonnewbornscreening.Phe-restricteddiethasbeeneffective.ClinicalcharacteristicswithadultPKUareatypical,easytobeignored,lessreported.ItisconstantlyimprovingthatunderstandingofPKUamongneurologistsinrecentyearswiththedevelopmentsofmassspectrometry,nuclearmagneticresonanceandgenetictesting.Inthisarticle,wereviewtheliteraturesandsummarizecurrentknowledgeofPKU,especiallyadultPKU.Keywords:Phenylketonuria;Adult;MassSpectrometry;MRI;Gene苯丙酮尿症(phenylketonuria，PKU)[1]是一种氨基酸代谢异常的常染色体隐性遗传代谢病，基因突变导致苯丙氨酸羟化酶缺乏(phenylalan...
