·92·临床儿科杂志2023年第41卷第2期JClinPediatrVol.41No.2Feb.2023高苯丙氨酸血症遗传分型与诊治梁黎黎上海交通大学医学院附属新华医院儿内分泌遗传科上海市儿科医学研究所（上海200092）摘要：高苯丙氨酸血症是一组常染色体隐性遗传氨基酸代谢病，由苯丙氨酸羟化酶及其辅酶四氢生物蝶呤缺陷引起，如不及时治疗将出现严重的神经系统损害，治疗以低苯丙氨酸饮食疗法和补充神经递质药物为主。我国于1982年开始进行高苯丙氨酸血症的新生儿筛查，越来越多的患者在新生儿疾病筛查过程中确诊。高苯丙氨酸血症的诊断已经从临床症状的诊断向新生儿期无症状的生化和基因诊断转变。如何对高苯丙氨酸血症患者进行早期识别和诊治，已然成为临床医师面临的新挑战。文章主要对高苯丙氨酸血症的遗传背景、诊断、鉴别诊断与治疗进行阐述，以提高临床医师对此疾病的认识。关键词：苯丙氨酸羟化酶；高苯丙氨酸血症；四氢生物喋呤；新生儿疾病筛查Geneticclassification,diagnosis,andtreatmentofhyperphenylalaninemiaLIANGLili(DepartmentofPediatricEndocrinologyandGeneticMetabolism,XinhuaHospitalAffiliatedtoShanghaiJiaoTongUniversitySchoolofMedicine,ShanghaiInstituteforPediatricResearch,Shanghai200092,China)Abstract:Hyperphenylalaninemiaisagroupofautosomalrecessiveaminoacidmetabolicdisorders,causedbydefectsinphenylalaninehydroxylaseanditscoenzymetetrahydrobiopterin.Ifleftuntreated,severeneurologicaldamagewilloccur.Treatmentisbasedonlow-phenylalaninediettherapyandneurotransmitterdrugsupplementation.NewbornscreeningforhyperphenylalaninemiabeganinChinain1982,moreandmorepatientsarebeingdiagnosedduringthescreening.Thediagnosisofhyperphenylalaninemiahasshiftedfromthediagnosisofclinicalsymptomstobiochemicalandgeneticdiagnosisinasymptomaticperiod.Theearlydifferentialdiagnosisandpropertreatmentforpatientswithhyperphenylalaninemiahasbecomeanewchallengeforclinicians.Therefore,thearticlefocusesonthegeneticbackground,diagnosis,differentialdiagnosisandtreatmentofhyperphenylalaninemia,toraisetheawarenessforthediseaseamongclinicians.Keywords:phenylalaninehydroxylase;hyperphenylalaninemia;tetrahydrobiopterin;newbornscreening青年编委介绍梁黎黎，医学博士。上海交通大学医学院...
