Transient 5-oxoprolinuria: unusually high anion gap acidosis in an infant

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.

Pyroglutamic acidosis by glutathione regeneration blockage in critical patients with septic shock

“…Gamma-glutamyl transpeptidase (GGT) plays key roles in GSH homeostasis by breaking down extracellular GSH and providing cysteine, the rate-limiting substrate, for the intracellular de novo synthesis of GSH. The presence of ROS and oxidative stress in sepsis, especially in septic shock, has led several studies to evaluate the role of NAC as adjuvant therapy [7, 44–50]. It is also important to suspend medications such as paracetamol or flucloxacillin in patients who manifest pyroglutamic acidemia so as not to further contribute to its increase [51, 52].…”