5-Oxoprolinase deficiency is clinically a very heterogeneous condition characterized by 5-oxoprolinuria.
Comprehensive, easy-to-understand information about this condition
Checking for content...
gamma-glutamylcysteine synthetase deficiency
MONDO:0009259
gamma-glutamyl transpeptidase deficiency
MONDO:0009285
spondylometaphyseal dysplasia, Sedaghatian type
MONDO:0009593
inherited glutathione synthetase deficiency
MONDO:0017909
hemolytic anemia due to glutathione reductase deficiency
MONDO:0019531