A successful liver transplantation in a patient with neonatal-onset carbamoyl phosphate synthetase-1 deficiency
We present this case to emphasize the efficacy of liver transplantation from a parent carrying a CPS-1 deficiency. The authors believe that, with further support from future studies, the use of carglumic acid can improve the prognosis in the chronic management of CPS-1 deficiency.
Authors
- Sezai Arslan (ORCID: https://orcid.org/0000-0002-3873-3010)
- Oğuzhan Yaralı (ORCID: https://orcid.org/0000-0002-0107-5720)
- Şerafettin Yazar (ORCID: https://orcid.org/0000-0002-1911-6746)
- Hasan Kahveci (ORCID: https://orcid.org/0000-0002-7535-5880)
- Selim Gökçe
- Kâmil Yalçın Polat (ORCID: https://orcid.org/0000-0002-2840-2429)
- Yasemin Abuşoğlu
- Ahmet Kargı
- Serdar Aslan (ORCID: https://orcid.org/0000-0002-6891-1615)
- İpek Kocaoğlu
Institutions
- Memorial Sisli Hospital (TR)
- Erzurum Regional Training and Research Hospital (TR)
Publication Details
- Journal
- Journal of Pediatric Endocrinology and Metabolism
- Published
- 2024-08-16
- DOI
- https://doi.org/10.1515/jpem-2024-0240
- Primary Topic
- Metabolism and Genetic Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00