A successful liver transplantation in a patient with neonatal-onset carbamoyl phosphate synthetase-1 deficiency
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Sezai Arslan
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İpek Kocaoğlu
Abstract
Objectives
Carbamoyl phosphate synthetase 1 (CPS-1) deficiency is a rare urea cycle disorder with an estimated prevalence of one in 150,000–200,000 live births. Patients often present with hyperammonemia shortly after protein feeding in the early days of life, and early-onset type is associated with high mortality rate.
Case presentation
We present here a case of a newborn male with a history of two deceased siblings whose ammonium level exceeded 200 μmol/L on the first day after birth, and who was started on dextrose infusion and ammonia-scavenging therapy after oral feeding was discontinued. Peritoneal dialysis was initiated after the patient’s ammonia level exceeded 500 μmol/L. At the age of five months, the patient underwent hemodialysis due to elevated ammonia levels accompanied by lethargy. The patient’s ammonia levels were successfully brought under control, and the patient underwent a liver transplantation at the age of six month, donated by the father.
Conclusions
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.
Acknowledgments
All researchers, doctors and dieticians who contributed to the diagnosis and treatment of this case are included in the article.
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Research ethics: In this study all applicable international, national, and/or institutional guidelines were followed.
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Informed consent: Informed and written consent was obtained from parents of the patient included in this case report.
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Author contributions: All of the authors declare that they have all participated in the design, execution, and analysis of the paper, and that they have approved the final version. The authors have accepted responsibility for entire content of this manuscript and approved its submission.
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Competing interests: The authors state no conflict of interest.
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Research funding: None declared.
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Data availability: All data generated or analyzed during this study are included in this article. Further inquiries can be directed to the corresponding author.
References
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Artikel in diesem Heft
- Frontmatter
- Review
- Refractory hypothyroidism in children: an overview
- Original Articles
- Oral glucose tolerance test curve shape in Mexican children and adolescents with and without obesity
- Reliability of self-reported pubertal development scale for girls in early adolescent: a school population-based study
- Allergic reactions to enzyme replacement therapy in children with lysosomal storage diseases and their management
- The role of Cardiotrophin-1 and echocardiography in early detection of subclinical diabetic cardiomyopathy in children and adolescents with type 1 diabetes mellitus
- Evaluation of the etiology of subclinical hypothyroidism in children
- Long-term efficacy and safety of PEGylated recombinant human growth hormone in treating Chinese children with growth hormone deficiency: a 5-year retrospective study
- Case Reports
- Effective and safe use of sirolimus in hyperinsulinemic hypoglycaemia refractory to medical and surgical therapy: a case series and review of literature
- Diabetes and CFAP126 gene mutation; are they really linked together?
- Pronounced neonatal breast enlargement beyond the first week of life and its regression correlates with serum prolactin levels – a case series
- A successful liver transplantation in a patient with neonatal-onset carbamoyl phosphate synthetase-1 deficiency
- Corrigendum
- New data supporting that early diagnosis and treatment are possible and necessary in intracellular cobalamin depletion: the case of transcobalamin II deficiency
