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ATP synthase deficiency due to m.8528T>C mutation – a novel cause of severe neonatal hyperammonemia requiring hemodialysis

  • Tamara Žigman ORCID logo , Katarina Šikić , Danijela Petković Ramadža , Johannes Mayr , Saskia Wortmann , Holger Prokisch , Dorotea Ninković , Daniel Dilber , Dalibor Šarić , Filip Rubić , Slobodan Galić , Jasna Slaviček , Dražen Belina , Ksenija Fumić and Ivo Barić EMAIL logo
Published/Copyright: November 13, 2020
Journal of Pediatric Endocrinology and Metabolism
From the journal Journal of Pediatric Endocrinology and Metabolism Volume 34 Issue 3

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.

Keywords: ATP synthase deficiency; hemodialysis; hyperammonemia
Corresponding author: Ivo Barić, MD, PhD, Full Professor of Pediatrics, Division for Genetics and Metabolic Diseases, Department of Pediatrics, University Hospital Center Zagreb, Kišpatićeva 12, 10000Zagreb, Croatia; and School of Medicine, University of Zagreb, Zagreb, Croatia, Phone: +385 1 2388 121, +385 1 2388 318, Fax: +385 1 2367 442, E-mail:
Tamara Žigman and Katarina Šikić have equally contributed to this article.

Funding source: German Federal Ministry of Education and Research

Award Identifier / Grant number: 01GM1603

  1. 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).

  2. 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.

  3. 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.

  4. Informed consent: Informed consent was obtained from all individuals included in this study.

  5. 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.

References

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Received: 2020-07-02
Accepted: 2020-10-05
Published Online: 2020-11-13
Published in Print: 2021-03-26

© 2020 Walter de Gruyter GmbH, Berlin/Boston

Articles in the same Issue

  1. Frontmatter
  2. Review Article
  3. Inborn errors of immunity and metabolic disorders: current understanding, diagnosis, and treatment approaches
  4. Original Articles
  5. Evaluation of hydration status of children with obesity—a pilot study
  6. Relationship between insulin-like growth factor-1, insulin resistance and metabolic profile with pre-obesity and obesity in children
  7. Evaluation of Hemoglobin A1c before and after initiation of continuous glucose monitoring in children with type 1 diabetes mellitus
  8. Karyotype is associated with timing of ovarian failure in women with Turner syndrome
  9. The role of makorin ring finger protein-3, kisspeptin, and neurokinin B in the physiology of minipuberty
  10. Brain MRIs may be of low value in most children diagnosed with isolated growth hormone deficiency
  11. Significant improvement in bone mineral density in pediatric celiac disease: even at six months with gluten-free diet
  12. Population-based waist circumference reference values in Japanese children (0–6 years): comparisons with Dutch, Swedish and Turkish preschool children
  13. Extended growth charts for Indian children
  14. Rib fractures in infancy, case-series and register case-control study from Sweden
  15. Gonadotropin releasing hormone analogue therapy in girls with idiopathic precocious puberty/early-fast puberty: dynamics in adiposity indices, eating habits and quality of life
  16. Case Reports
  17. Transient benign hyperphosphatasemia due to COVID-19: the first case report
  18. ATP synthase deficiency due to m.8528T>C mutation – a novel cause of severe neonatal hyperammonemia requiring hemodialysis
  19. IgG4-related hypophysitis in adolescence
  20. Graves’ disease in a five-month-old boy with an unusual treatment course
  21. Oral sodium phenylbutyrate for hyperammonemia associated with congenital portosystemic shunt: a case report
  22. Severe multisystem organ dysfunction in an adolescent with simultaneous presentation of Addison’s and Graves’ disease
https://doi.org/10.1515/jpem-2020-0396
Keywords for this article
ATP synthase deficiency; hemodialysis; hyperammonemia

Articles in the same Issue

  1. Frontmatter
  2. Review Article
  3. Inborn errors of immunity and metabolic disorders: current understanding, diagnosis, and treatment approaches
  4. Original Articles
  5. Evaluation of hydration status of children with obesity—a pilot study
  6. Relationship between insulin-like growth factor-1, insulin resistance and metabolic profile with pre-obesity and obesity in children
  7. Evaluation of Hemoglobin A1c before and after initiation of continuous glucose monitoring in children with type 1 diabetes mellitus
  8. Karyotype is associated with timing of ovarian failure in women with Turner syndrome
  9. The role of makorin ring finger protein-3, kisspeptin, and neurokinin B in the physiology of minipuberty
  10. Brain MRIs may be of low value in most children diagnosed with isolated growth hormone deficiency
  11. Significant improvement in bone mineral density in pediatric celiac disease: even at six months with gluten-free diet
  12. Population-based waist circumference reference values in Japanese children (0–6 years): comparisons with Dutch, Swedish and Turkish preschool children
  13. Extended growth charts for Indian children
  14. Rib fractures in infancy, case-series and register case-control study from Sweden
  15. Gonadotropin releasing hormone analogue therapy in girls with idiopathic precocious puberty/early-fast puberty: dynamics in adiposity indices, eating habits and quality of life
  16. Case Reports
  17. Transient benign hyperphosphatasemia due to COVID-19: the first case report
  18. ATP synthase deficiency due to m.8528T>C mutation – a novel cause of severe neonatal hyperammonemia requiring hemodialysis
  19. IgG4-related hypophysitis in adolescence
  20. Graves’ disease in a five-month-old boy with an unusual treatment course
  21. Oral sodium phenylbutyrate for hyperammonemia associated with congenital portosystemic shunt: a case report
  22. Severe multisystem organ dysfunction in an adolescent with simultaneous presentation of Addison’s and Graves’ disease
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