5-oxoprolinase deficiency

MONDO:0009825

5-Oxoprolinase deficiency is clinically a very heterogeneous condition characterized by 5-oxoprolinuria.

Also known as: 5-oxoprolinase deficiency, 5-oxoprolinase deficiency (disease), inborn 5-oxoprolinase (ATP-hydrolyzing) activity disorder, inborn error of 5-oxoprolinase (ATP-hydrolyzing) activity, oxoprolinuria due to oxoprolinase deficiency, rare inborn error of 5-oxoprolinase (ATP-hydrolyzing) activity, 5-alpha-oxoprolinase deficiency, OPLAHD

1 clinical trial for this condition and its sub-types, 0 tagged with 5-oxoprolinase deficiency itself.

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Where it sits in the disease tree

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Part of

↑ Inherited glutathione metabolism disease (1)

Including sub-types (1) Tagged with 5-oxoprolinase deficiency (0)

Trials to join now! 1

NIH launches major study to unlock secrets of rare bone diseases

Knowledge-focused Recruiting now

This study aims to collect information and bone samples from up to 1,000 people with bone or mineral disorders, such as tumor-induced osteomalacia or familial tumoral calcinosis. Participants receive standard medical evaluations and may provide bone tissue from surgery or a biops…

Sponsor: National Institute of Dental and Craniofacial Research (NIDCR) • Aim: Knowledge-focused

Last updated Sep 18, 2026 00:00 UTC

5-oxoprolinase deficiency

Where it sits in the disease tree

NIH launches major study to unlock secrets of rare bone diseases