5-Oxoprolinuria
What is it:
 • Aka pyroglutamic acidosis, ...
180
Description

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 
Contributed by

Dr. Gerald Diaz
@GeraldMD
Board Certified Internal Medicine Hospitalist, GrepMed Editor in Chief 🇵🇭 🇺🇸 - Sign up for an account to like, bookmark and upload images to contribute to our community platform. Follow us on IG:  https://www.instagram.com/grepmed/ | Twitter: https://twitter.com/grepmeded/
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