中国实用儿科杂志2024，Vol.39Issue(10)：747-751,5.DOI:10.19538/j.ek2024100607
尿苷代谢异常与发育性癫痫性脑病50型的诊断与治疗
Abnormal uridine metabolism and the diagnosis and treatment of developmental and epileptic encephalopathy 50
摘要
Abstract
Uridine,a pyrimidine nucleoside,is a key precursor in pyrimidine metabolism and is present in plasma and cerebrospinal fluid.Despite being a simple small molecule metabolite,it plays a crucial role in various biological processes,including macromolecule synthesis,circadian rhythm,inflammatory response,antioxidation,and aging.Abnormal uridine metabolism can lead to numerous diseases,primarily neuropsychiatric disorders,and some patients have orotic aciduria.Developmental and epileptic encephalopathy 50 is a rare autosomal recessive disorder caused by defects in the CAD gene,leading to decreased activity of the multifunctional enzyme complex(glutamine amidotransferase,carbamoyl-phosphate synthetase 2,dihydroorotase,and aspartate transcarbamylase,CAD)and impaired de novo synthesis of uridine-5'-monophosphate.The typical clinical triad includes refractory epilepsy,erythroblastopenia,and intellectual and motor developmental delay with regression.CAD gene analysis is crucial for diagnosis.Developmental and epileptic encephalopathy 50 is a treatable rare disease.Early diagnosis and oral uridine supplementation are keys to the good outcome.Without timely treatment,it can lead to progressive brain atrophy,poor prognosis,and even death.关键词
尿苷/CAD基因/发育性癫痫性脑病50型/乳清酸尿症/罕见病Key words
uridine/CAD gene/developmental and epileptic encephalopathy 50/orotic aciduria/rare disease分类
医药卫生引用本文复制引用
李东晓,沈凌花,张婧韬,杨艳玲..尿苷代谢异常与发育性癫痫性脑病50型的诊断与治疗[J].中国实用儿科杂志,2024,39(10):747-751,5.基金项目
国家重点研发计划(2021YFC2700903,2022YFC2703401) （2021YFC2700903,2022YFC2703401）
国家自然科学基金(82000850) （82000850）
