Abnormal uridine metabolism and the diagnosis and treatment of developmental and epileptic encephalopathy 50
LI Dong-xiao
SHEN Ling-hua
ZHANG Jing-tao
YANG Yan-ling
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.
Keywords：uridineCAD genedevelopmental and epileptic encephalopathy 50orotic aciduriarare disease
Publication Date：2024-10-06
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：5( 747-751 )