5-oxoprolinase deficiency
5-oxoprolinase deficiency
Definition
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 — per MONDO