Abstract
Transient 5-oxoprolinuria is a phenomenon that is well recognised in adults. We illustrate an unusual paediatric case of transient 5-oxoprolinuria presenting during an episode of severe sepsis with concomitant paracetamol use. The 15-month-old patient had an extremely high anion gap metabolic acidosis. Adequate resuscitation failed to correct the biochemical disturbance, and high levels of 5-oxoproline were identified. A combination of haemofiltration, replenishment of glutathione stores with N-acetylcysteine and cessation of paracetamol administration resulted in the resolution of the acidosis. Subsequent testing following treatment of the sepsis revealed no ongoing 5-oxoprolinuria.
Conclusion: Transient 5-oxoprolinuria has been previously reported in the adult population during episodes of severe sepsis and various pharmaceutical interventions. This case illustrates that it is a phenomenon that should be considered in paediatric patients where a very high anion gap metabolic acidosis exists that cannot be explained by the biochemical indices.
What is Known: • 5-oxoprolinuria in the paediatric population is usually secondary to an inborn error of metabolism. • Transient 5-oxoprolinuria is well recognised in adults during episodes of severe glutathione depletion. |
What is New: • Transient 5-oxoprolinuria is a phenomenon rarely reported in the paediatric population. • It highlights the importance of investigating a high anion gap such that unusual diagnoses are not missed. |
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Abbreviations
- CRP:
-
C-reactive protein
- MA:
-
Metabolic acidosis
- NAPQI:
-
N-acetylbenzoquinoneimine
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Acknowledgments
We would like to thank the healthcare providers within the PICU and medical teams, as well as laboratory staff at Sheffield Children’s Hospital for their input with the patient.
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The authors declare that they have no conflict of interests. Informed consent was obtained from the parents of the child for the write up of this case.
Authors’ Contributions
Sarah Hulley was responsible for the literature search and preparation of the manuscript. Jeff Perring was involved in the intensive care management of the patient. Nigel Manning was responsible for the laboratory analysis of metabolic samples as well as interpretation of results. Simon Olpin was responsible for the interpretation of the metabolic results. Sufin Yap provided clinic advice regarding metabolic issues and assisted with manuscript preparation. All authors approved the final copy of the manuscript.
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Communicated by Beat Steinmann
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Hulley, S.L., Perring, J., Manning, N. et al. Transient 5-oxoprolinuria: unusually high anion gap acidosis in an infant. Eur J Pediatr 174, 1685–1688 (2015). https://doi.org/10.1007/s00431-015-2585-6
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DOI: https://doi.org/10.1007/s00431-015-2585-6