中国实用儿科杂志2024，Vol.39Issue(12)：911-915,5.DOI:10.19538/j.ek2024120606
甲基丙二酸血症的诊治现状与展望
Current situation and prospect of the diagnosis and treatment of methylmalonic acidemia
摘要
Abstract
Methylmalonic acidemia or aciduria(MMA)is a common organic acidemia/aciduria in China.It is caused by the metabolic disorder of methylmalonyl-CoA mutase(MCM)or its coenzyme cobalamin(cbl),resulting in a large number of metabolites accumulating in the body,and causing damage to nerves,liver,kidney,bone marrow and other organs.Due to the diverse clinical features and lack of specificity,it is particularly prone to misdiagnosis and missed diagnosis,and finally it has to be diagnosed by biochemical and metabolic examination and genetic testing.Once diagnosed,the patients with isolated MMA with no response or partial response to vitamin B12 should start limiting protein intake as early as possible.For patients with response to vitamin B12,long-term treatment with vitamin B12 can be given(hydroxycobalamin preferred).MMA patients with hyperhomocysteinemia can be given oral betaine to reduce homocysteine levels.For MMA patients with secondary hyperammonemia,treatment with carglumic acid is of good efficacy.For patients with poor response to treatment,liver(or liver and kidney)transplantation may be attempted.Gene therapy has made some progress in animal experiments in recent years,and it is expected that it can be applied to patients in the future to achieve new breakthroughs.关键词
甲基丙二酸血症/甲基丙二酸尿症/甲基丙二酰辅酶A变位酶/钴胺素/诊断/治疗Key words
methylmalonic acidemia/methylmalonic aciduria/methylmalonyl-CoA mutase/cobalamin/diagnosis/treatment分类
医药卫生引用本文复制引用
汪治华,刘超,李玛丽..甲基丙二酸血症的诊治现状与展望[J].中国实用儿科杂志,2024,39(12):911-915,5.基金项目
陕西省重点研发计划(2023-YBSF-065) （2023-YBSF-065）
西安市科技计划(21YXYJ0013) （21YXYJ0013）
西安市儿童医院院级课题(2022F04) （2022F04）
