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.
Competing interests: None declared
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References
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We would like to thank the Green Cross Laboratories for delivering samples to the Netherlands.
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Communicated by: John Christodoulou, MB BS PhD FRACP FRCPA
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Take-Home Message
We report a first Korean case of ß-ureidopropionase deficiency presenting with intractable seizure, intellectual disability, and microcephaly who was homozygous for p.R326Q and heterozygous for p.G31S in the UPB1 gene, presenting with typical biochemical analysis results in pyrimidine pathways.
Contribution of Individual Authors
Si Houn Hahn and Valeria Vasta performed genetic study interpret and analyze the results. André B.P. van Kuilenburg and N. G. G. M. Abeling performed biochemical analysis. Si Houn Hahn and André B.P. van Kuilenburg participated in drafting the manuscript. Jun Hwa Lee drafted the manuscript and was the treating pediatricians.
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Jun Hwa Lee
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The study was approved by the Institutional Review Board of Samsung Changwon Hospital (IRB study #2013-SCMC-058-00).
Conflicting Interests
Jun Hwa Lee declares that he has no conflict of interest.
André B.P. van Kuilenburg declares that he has no conflict of interest.
Valeria Vasta declares that she has no conflict of interest.
N. G. G.M. Abeling declares that he has no conflict of interest.
Si Houn Hahn declares that he has no conflict of interest.
Informed Consent
All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (Samsung Changwon Hospital, Republic of Korea) and with the Helsinki Declaration of 1975, as revised in 2000 (5). Informed consent was obtained from the parents.
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Lee, J.H., van Kuilenburg, A.B.P., Abeling, N.G.G.M., Vasta, V., Hahn, S.H. (2014). A Korean Case of β-Ureidopropionase Deficiency Presenting with Intractable Seizure, Global Developmental Delay, and Microcephaly. In: Zschocke, J., Baumgartner, M., Morava, E., Patterson, M., Rahman, S., Peters, V. (eds) JIMD Reports, Volume 19. JIMD Reports, vol 19. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2014_379
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DOI: https://doi.org/10.1007/8904_2014_379
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