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5-Oxoprolinase deficiency Disease name 5-Oxoprolinase deficiency (OMIM 260005) Definition and diagnostic criteria 5-Oxoprolinase deficiency is a very rare autosomal recessive disease characterized by 5-oxoprolinuria and very heterogeneous clinical presentation (renal stone formation, enterocolitis, mental retardation, neonatal hypoglycemia, microcytic anemia and microcephaly)