成人苯丙酮尿症  

Adult Phenylketonuria

作　　者：杨君[1] 吴昭英[1] 张丽丽[1] 王玉忠[1] 冯勋刚[1] YANG Jun;WU Zhao-ying;ZHANG Li-li;WANG Yu-zhong;FENG Xun-gang(Department of Neurology,The Affiliated Hospital of Jining Medical University,Jining 272029,Shandong Province,China)

机构地区：[1]济宁医学院附属医院神经内科,山东济宁272029

出　　处：《罕少疾病杂志》2023年第8期1-2,10,共3页Journal of Rare and Uncommon Diseases

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。Phenylketonuria is an autosomal recessive inherited metabolic disease with disorders of amino acid metabolism,which is caused by gene mutations,phenylalanine hydroxylase or tetrahydrobiopterin deficiency,more common in children.Blood phenylalanine concentrations are increased,resulting in damage to the central nervous system.This brain dysfunction causes intellectual retardation.Early diagnosis is based on newborn screening.Phe-restricted diet has been effective.Clinical characteristics with adult PKU are atypical,easy to be ignored,less reported.It is constantly improving that understanding of PKU among neurologists in recent years with the developments of mass spectrometry,nuclear magnetic resonance and genetic testing.In this article,we review the literatures and summarize current knowledge of PKU,especially adult PKU.

关 键 词：苯丙酮尿症 成年人 质谱 磁共振成像 基因 

分 类 号：R589[医药卫生—内分泌]