Faculty Information |
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Article types | Original article |
Language | English |
Refereed paper | Refereed |
Title | Retrospective evaluations revealed pre-symptomatic citrulline concentrations measured by newborn screening were significantly low in late-onset ornithine transcarbamylase deficiency patients |
Journal | Formal name:Clinica Chimica Acta Abbreviation:Clin Chim Acta |
Domestic / Foregin | Foregin |
Volume, Number, Page | 510,pp.633-637 |
Total page number | 5 |
Papers・Author | Tomoko Lee, Katsuhiko Yoshii, Satoru Yoshida, Takenori Suga, Kimitoshi Nakamura, Hideo Sasai, Kei Murayama, Hironori Kobayashi, Yuki Hasegawa, YasuhiroTakeshima |
Publication date | 2020/11 |
Papers・Description | Late-onset Ornithine transcarbamylase deficiency (OTCD) manifests after the neonatal period. This study aimed to evaluate the pre-symptomatic blood citrulline levels in patients with late-onset OTCD.Patients with late-onset OTCD who were born after the newborn screening based on tandem mass spectrometry (MS/MS-NBS) was started and were referred to Hyogo College of Medicine Hospital between 2014 and 2018 were included. Four patients were included in this study. The pre-symptomatic blood citrulline levels were 2.02, 4.50, 4.97, and 3.75 µmol/l, respectively. Compared with the citrulline levels in all newborns in Hyogo prefecture, these values were significantly low. These results suggest the possibility that hypocitrullinemia detected by the MS/MS-NBS can be used as a screening marker for some patients with late-onset OTCD. |