丙酸血症筛查及诊治专家共识  

Expert consensus on screening and diagnosis and treatment of propionic academia

作　　者：中华预防医学会出生缺陷预防与控制专业委员会新生儿筛查学组 中国医师协会青春期健康与医学专业委员会 中国妇幼保健协会儿童疾病和保健分会遗传代谢病学组 中国妇幼保健协会遗传代谢病和维生素代谢专业委员会 中国妇幼保健协会儿童药食同源代谢干预专业委员会 韩连书[2] 杨艳玲[3] 杨茹莱[4] 邹卉 王峤[6] 巩纯秀[6] 赵正言[4] Neonatal Screening Group of the Birth Defect Prevention and Control Professional Committee of the Chinese Preventive Medicine Association;Adolescent Health and Medical Professional Committee of the Chinese Medical Doctor Association;Genetic and Metabolic Disease Group of the Child Disease and Health Branch of the China Maternal and Child Health Association;HAN Lian-shu;YANG Yan-ling;GONG Chun-xin;ZHAO Zheng

机构地区：[1]不详 [2]上海交通大学医学院附属新华医院 [3]北京大学第一医院 [4]浙江大学医学院附属儿童医院 [5]山东第一医科大学附属济南妇幼保健院 [6]首都医科大学附属北京儿童医院

出　　处：《中国实用儿科杂志》2024年第4期241-248,共8页Chinese Journal of Practical Pediatrics

基　　金：上海市卫生健康委员会科研项目(202140346);国家重点研发计划(2022YFC2703401,2021YFC1005305)。

摘　　要：丙酸血症是罕见病,也是相对常见的有机酸血症,临床表现无特异性,急性发作期以呕吐、嗜睡、肌无力或抽搐为主,稳定期以脑损伤导致的运动、语言及智力发育落后为主。诊断主要依据血丙酰肉碱、丙酰肉碱与乙酰肉碱比值、尿甲基枸橼酸增高及PCCA或PCCB基因变异。治疗以饮食治疗、左卡尼汀及对症处理为主。在先证者诊断明确的基础上,父母再生育时可通过产前诊断判断胎儿是否患丙酸血症。为提高丙酸血症的诊治策略,达到早诊断、早治疗及改善预后的目的,参考国内外相关文献,经国内相关专家认真及充分讨论,制定该共识。Propionic acidemia is a rare disease.It is also a common organic acidemia.The clinical manifestations of the patientsare nonspecific,including vomiting,lethargy,muscle weakness or convulsions during acute stage,and motor,language and intellectual retardation due to brain damage during the stablephase.Diagnosis of the disease is based on increased bloodpropionyl-carnitine,propionyl-carnitine to acetyl-carnitineratio,urinary methylcitrate and mutation of PCCA or PCCB gene.Treatment of the disease is based on dietary therapy,L-carnitine and symptomatic management.Propionic acidemia can be detected by prenatal testing for the fetus of the family whose proband had definite diagnosis.In order to improve the strategyfor the diagnosis and treatment of propionic acidemiaand achieve the Objective of early diagnosis,early treatment and betterprognosis,the consensus was formulated by referring to relevant domestic and foreign literature and careful discussion by relevantdomestic experts.

关 键 词：丙酸血症 新生儿筛查 有机酸 诊断 治疗 

分 类 号：R72[医药卫生—儿科]