Retrospective evaluations revealed pre-symptomatic citrulline concentrations measured by newborn screening were significantly low in late-onset ornithine transcarbamylase deficiency patients
| Autor: | Kei Murayama, Tomoko Lee, Kimitoshi Nakamura, Katsuhiko Yoshii, Yasuhiro Takeshima, Satoru Yoshida, Takenori Suga, Hideo Sasai, Hironori Kobayashi, Yuki Hasegawa |
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| Rok vydání: | 2020 |
| Předmět: |
0301 basic medicine
medicine.medical_specialty Urea cycle disorder Clinical Biochemistry Late onset Biochemistry Gastroenterology 03 medical and health sciences chemistry.chemical_compound Neonatal Screening 0302 clinical medicine Tandem Mass Spectrometry Internal medicine medicine Citrulline Humans In patient Prospective Studies Ornithine Carbamoyltransferase Ornithine transcarbamylase deficiency Retrospective Studies Newborn screening business.industry Biochemistry (medical) Infant Newborn Hyperammonemia Retrospective cohort study General Medicine medicine.disease Ornithine Carbamoyltransferase Deficiency Disease 030104 developmental biology chemistry 030220 oncology & carcinogenesis business |
| Zdroj: | Clinica Chimica Acta. 510:633-637 |
| ISSN: | 0009-8981 |
| Popis: | Introduction Ornithine transcarbamylase deficiency (OTCD) is the most common urea cycle disorder. Late-onset OTCD manifests after the neonatal period; therefore, if pre-symptomatic diagnosis and treatment are performed, it can improve the prognosis by preventing hyperammonemia. However, pre-symptomatic diagnosis is unreliable as the specific screening marker of OTCD has not been established yet. This retrospective study aimed to evaluate the pre-symptomatic blood citrulline levels in patients with late-onset OTCD. Methods 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. Pre-symptomatic blood citrulline levels measured by MS/MS-NBS were retrospectively evaluated. Results 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. Conclusions 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. Further retrospective evaluation of pre-symptomatic citrulline levels in patients with late-onset OTCD, as well as prospective monitoring of hypocitrullinemia on the MS/MS-NBS should be conducted. |
| Databáze: | OpenAIRE |
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