Lee Jun Hwa, van Kuilenburg André B P, Abeling N G G M, Vasta Valeria, Hahn Si Houn
Department of Pediatric Neurology, Samsung Changwon Hospital, Sungkyunkwan University School of Medicine, 158, Palyong-Ro, Masanhoiwon-Gu, Changwon city, Gyeongsangnam-DO, 630-522, Republic of Korea,
JIMD Rep. 2015;19:117-21. doi: 10.1007/8904_2014_379. Epub 2015 Feb 1.
β-Ureidopropionase deficiency (OMIM #613161) is a rare autosomal recessive inborn error of metabolism due to mutations in the UPB1 gene, which encodes the third enzyme involved in the pyrimidine degradation pathway. A total of 28 cases have been reported, mainly presenting with seizures, microcephaly, and intellectual disabilities. However, 11 of them were asymptomatic cases (Nakajima et al., J Inherit Metab Dis 37(5):801-812, 2014). We report on a 9-year-old female presenting with intractable epilepsy, microcephaly, and global developmental delay. She was homozygous for p.R326Q (c.977G>A) and heterozygous for p.G31S (c.91G>A) in the UPB1 gene, detected by targeted next-generation sequencing test and subsequently confirmed by biochemical analysis of urine, plasma, and cerebrospinal fluid (CSF) using reversed-phase HPLC, combined with electrospray tandem mass spectrometry. We report a first Korean female case with β-ureidopropionase deficiency.
β-脲基丙酸酶缺乏症（OMIM #613161）是一种罕见的常染色体隐性遗传代谢病，由UPB1基因突变所致，该基因编码参与嘧啶降解途径的第三种酶。目前共报道了28例病例，主要表现为癫痫发作、小头畸形和智力障碍。然而，其中11例为无症状病例（中岛等人，《遗传代谢病杂志》37(5):801 - 812，2014年）。我们报告了一名9岁女性，表现为难治性癫痫、小头畸形和全面发育迟缓。通过靶向二代测序检测发现，她的UPB1基因p.R326Q（c.977G>A）位点为纯合突变，p.G31S（c.91G>A）位点为杂合突变，随后通过反相高效液相色谱结合电喷雾串联质谱对尿液、血浆和脑脊液（CSF）进行生化分析得以证实。我们报告了首例韩国女性β-脲基丙酸酶缺乏症病例。
