Al-Otaibi Ali, AlAyed Alaa, Al Madhi Asma, Saeed Leena, Ng Bobby G, Freeze Hudson H, Almannai Mohammed
Department of Pediatric Neurology, National Neuroscience Institute, King Fahad Medical City, Riyadh, Saudi Arabia.
Section of Medical Genetics, Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.
Mol Genet Metab Rep. 2021 Dec 16;30:100835. doi: 10.1016/j.ymgmr.2021.100835. eCollection 2022 Mar.
Developmental and epileptic encephalopathy type 50 is an autosomal recessive disorder caused by pathogenic variants in . This gene encodes a multifunctional enzyme involved in the initial steps of pyrimidine synthesis. Uridine treatment has been shown to be effective in this disease. Here, we report two siblings with pathogenic variants who presented with developmental regression and intractable epilepsy. Treatment with oral uridine monophosphate (UMP) resulted in remarkable and rapid clinical improvement in terms of developmental progress and seizure control. We also reviewed previous literature and summarized all reported patients to date.
50型发育性和癫痫性脑病是一种常染色体隐性疾病，由……中的致病变异引起。该基因编码一种参与嘧啶合成初始步骤的多功能酶。已证明尿苷治疗对这种疾病有效。在此，我们报告了两名携带致病变异的同胞，他们出现了发育倒退和难治性癫痫。口服单磷酸尿苷（UMP）治疗在发育进程和癫痫控制方面带来了显著且迅速的临床改善。我们还回顾了既往文献并总结了迄今为止所有报告的患者。
