Chapter title |
A Korean Case of β-Ureidopropionase Deficiency Presenting with Intractable Seizure, Global Developmental Delay, and Microcephaly.
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Chapter number | 379 |
Book title |
JIMD Reports, Volume 19
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Published in |
JIMD Reports, February 2015
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DOI | 10.1007/8904_2014_379 |
Pubmed ID | |
Book ISBNs |
978-3-66-246189-1, 978-3-66-246190-7
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Authors |
Jun Hwa Lee, André B P van Kuilenburg, N G G M Abeling, Valeria Vasta, Si Houn Hahn, André B. P. van Kuilenburg, N. G. G. M. Abeling, Lee, Jun Hwa, van Kuilenburg, André B. P., Abeling, N. G. G. M., Vasta, Valeria, Hahn, Si Houn |
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. |
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Members of the public | 1 | 100% |
Mendeley readers
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Unknown | 10 | 100% |
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Student > Ph. D. Student | 4 | 40% |
Researcher | 3 | 30% |
Professor | 2 | 20% |
Other | 1 | 10% |
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Medicine and Dentistry | 5 | 50% |
Biochemistry, Genetics and Molecular Biology | 2 | 20% |
Agricultural and Biological Sciences | 2 | 20% |
Psychology | 1 | 10% |