异戊酸血症的研究进展  

Current understanding and progress of research on isovaleric academia

作　　者：赵云飞 祝莎莎 黄新文[1] Zhao Yunfei;Zhu Shasha;Huang Xinwen(Department of Genetics and Metabolism,Children7s Hospital Affiliated to Zhejiang University School of Medicine,National Clinical Research Center for Child Healthy Hangzhou,Zhejiang 310052,China;Department of Pediatrics,Taizhou Maternal and Child Health Care Hospital,Zhejiang 318001,China)

机构地区：[1]浙江大学医学院附属儿童医院遗传与代谢科,国家儿童健康与疾病临床医学研究中心,杭州310052 [2]台州市妇女儿童医院儿科,浙江318001

出　　处：《中华医学遗传学杂志》2022年第1期99-102,共4页Chinese Journal of Medical Genetics

基　　金：国家重点研发计划(2018YFC1002204)。

摘　　要：异戊酸血症是最早明确诊断的一种有机酸血症,呈常染色体隐性遗传。该病新生儿期至成人期均可发病,临床表现复杂多样,主要临床表现包括喂养困难、顽固性呕吐、嗜睡、昏迷、代谢性酸中毒、汗脚样体臭和智力发育迟缓等,病死率和致残率较高,早期诊断和合理治疗可以明显改善患者的预后。本文就异戊酸血症的研究进展做一综述。Isovaleric acidemia is a type of organic acidemia for which the earliest definite diagnosis was attained.It features an autosomal recessive inheritance,with the onset of age varying from newborn to adulthood.The clinical manifestations are complex and variable,which include feeding difficulty,vomiting,lethargy,coma,metabolic acidosis,sweaty feet odor and mental retardation.The mortality and mobility rates of isovaleric acidemia are quite high,and early diagnosis and rational treatment can significantly improve the prognosis.This article has provided a summary for the current understanding and research progress on isovaleric acidemia.

关 键 词：异戊酸血症 有机酸血症 新生儿筛查 

分 类 号：R722.11[医药卫生—儿科]