5-oxoprolinase deficiency
MONDO:00098255-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.
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Disease
(680)
Metabolic disease
(233)
Hereditary disease
(176)
Inborn errors of metabolism
(45)
Human disease
(14)
Disease of genetic or genomic mechanism
(2)
Mineral metabolism disease
(2)
Disease by developmental or physiological process
(0)
Disease by etiologic mechanism
(0)
Disorder of peptide and amine metabolism
(0)