Abstract
Objectives
Hyperammonemia in a newborn is a serious condition, which requires prompt intervention as it can lead to severe neurological impairment and death if left untreated. The most common causes of hyperammonemia in a newborn are acute liver failure and inherited metabolic disorders. Several mitochondrial disorders have been described as a cause of severe neonatal hyperammonemia.
Case presentation
Here we describe a new case of adenosine-triphosphate (ATP) synthase deficiency due to m.8528T>C mutation as a novel cause of severe neonatal hyperammonemia. So far six patients with this mutation have been described but none of them was reported to need hemodialysis in the first days of life.
Conclusion
This broadens the so far known differential diagnosis of severe neonatal hyperammonemia requiring hemodialysis.
Funding source: German Federal Ministry of Education and Research
Award Identifier / Grant number: 01GM1603
Research funding: H. P. was supported by a German Federal Ministry of Education and Research (BMBF and Horizon2020) through the E-Rare project GENOMIT (01GM1603).
Author contributions: All authors have accepted responsibility for the entire content of this submitted manuscript and approved submission. T. Ž. and K. Š. wrote the manuscript and did literature search. I. B. formulated the idea of the manuscript. K. F. took part in laboratory diagnostics. J. M., S. M., and H. P. performed genetic analysis. T. Ž., D. P. R., D. N., D. D., D. Š., F. R., J. S., D. B., and I. B. were involved in patient management. All authors provided critical feedback and approved the final manuscript.
Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.
Informed consent: Informed consent was obtained from all individuals included in this study.
Ethical approval: Research involving human subjects complied with all relevant national regulations, institutional policies and is in accordance with the tenets of the Helsinki Declaration.
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