中国实用儿科杂志2025，Vol.40Issue(12)：988-994,7.DOI:10.19538/j.ek2025120604
叶酸与叶酸代谢异常导致的疾病
Folate and the diseases caused by abnormal folate metabolism
王峤 1杨艳玲 2吴迪1
作者信息
- 1. 首都医科大学附属北京儿童医院内分泌遗传代谢科,北京 100045
- 2. 北京大学第一医院儿童医学中心,北京 102600
- 折叠
摘要
Abstract
Folate is an essential water-soluble vitamin for the human body,involved in various metabolic processes.Defects in enzymes related to folate metabolic passway and transport carriers of folate can lead to diseases.Patients with folate metabolic disorders primarily exhibit neurological and psychiatric symptoms as well as abnormalities in the hematopoietic system.The keys to diagnosis include the detection of 5-methyltetrahydrofolate in serum and cerebrospinal fluid and genetic sequencing.With early diagnosis,most patients can achieve good outcome through folate supplementation.关键词
叶酸/5-甲基四氢叶酸/叶酸转运/巨幼细胞性贫血Key words
folate/5-methyltetrahydrofolate/folate transport/megaloblastic anemia分类
医药卫生引用本文复制引用
王峤,杨艳玲,吴迪..叶酸与叶酸代谢异常导致的疾病[J].中国实用儿科杂志,2025,40(12):988-994,7.
