title: A Korean Case of β-Ureidopropionase Deficiency Presenting with Intractable Seizure, Global Developmental Delay, and Microcephaly.
abstract: 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.
authors: 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, ljh3643@hanmail.net.
authors: Jun Hwa
authors: JH
authors: Lee
authors: André B P
authors: AB
authors: van Kuilenburg
authors: N G G M
authors: NG
authors: Abeling
authors: Valeria
authors: V
authors: Vasta
authors: Si Houn
authors: SH
authors: Hahn
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