5-Oxoprolinuria What is it: • Aka pyroglutamic acidosis, Intermediate in γ-glutamyl cycle • Amino acid transport and glutathione synthesis • Inborn errors of metabolism • Glutathione synthetase, 5-oxoprolinase • Acquired disease in adults • Link to chronic paracetamol ingestion Clinical presentation: • Typically women, of any age • Concomitant acute illness; often evolves in hospital • Continuous paracetamol use common Risk factors: • Malnutrition, pregnancy (glycine deficiency) • Liver and renal impairment • Type 2 diabetes • Other drugs: flucloxacillin, vigabatrin Diagnosis: • HAGMA; Paracetamol level often undetectable • Lactic acid / ketonaemia insufficient • Requires high index of clinical suspicion • Measure urine 5-oxoproline (slow turnaround) • le urine organic acid screen Treatment (all empirical / theoretical) • Supportive / HDU • Withdraw paracetamol • N-acetyl cysteine • Hemodialysis if severe (pyroglutamic acid is readily dialysed) Dr. John Booth @ThePeanutKidney #Oxoprolinuria #diagnosis #management #treatment
