中国实用儿科杂志2024，Vol.39Issue(2)：152-156,5.DOI:10.19538/j.ek2024020615
甲基丙二酸血症神经发育障碍分析与康复策略
Analysis of neurodevelopmental disorder and rehabilitation treatment strategy of methylmalonic acidemia
摘要
Abstract
Methylmalonic acidemia(MMA)also known as methylmalonic aciduria,is one of the the most common inherited metabolic disease in China.Although it is a rare disease,it is not uncommon in clinical practice.Nervous system injury is the main complication of methylmalonic acidemia,which seriously affects the quality of life of children.However,the occurrence,mechanism,prevention and treatment still need to be further studied.Early detection and identification of methylmalonic acidemia with neurodevelopmental disorder,and timely and effective intervention can minimize neurological damage and improve long-term prognosis.Starting from the reasons for the formation of neurodevelopmental disorders methylmalonic acidemia,the neurodevelopmental characteristics and rehabilitation treatment strategies of MMA are described.关键词
甲基丙二酸血症/儿童/神经发育/康复Key words
methylmalonic acidemia/child/neurodevelopment/rehabilitation分类
医药卫生引用本文复制引用
郑宏,马丙祥,陆相朋..甲基丙二酸血症神经发育障碍分析与康复策略[J].中国实用儿科杂志,2024,39(2):152-156,5.基金项目
国家自然科学基金面上项目(82274579) （82274579）
国家自然科学基金青年基金项目(82104929) （82104929）
国家中医临床研究基地科研专项(2021JDZY027) （2021JDZY027）
河南省高等学校重点科研项目(21A360004) （21A360004）
河南省科技厅科技攻关项目(212102310364) （212102310364）
