5-oxoprolinase deficiency
5-Oxoprolinase deficiency is clinically a very heterogeneous condition characterized by 5-oxoprolinuria.
MONDO:0040566
inherited glutathione metabolism disease
is_a
5-alpha-oxoprolinase deficiency
related
5-oxoprolinase deficiency
exact
5-oxoprolinase deficiency (disease)
exact
OPLAHD
related
inborn 5-oxoprolinase (ATP-hydrolyzing) activity disorder
exact
inborn error of 5-oxoprolinase (ATP-hydrolyzing) activity
exact
oxoprolinuria due to oxoprolinase deficiency
exact
rare inborn error of 5-oxoprolinase (ATP-hydrolyzing) activity
exact
SPAC11D3.14c SPAC11D3.15