" /> Oxoprolinuria - CISMeF





Preferred Label : Oxoprolinuria;

ICD-11 definition : 5-Oxoprolinase deficiency is a clinically heterogeneous disorder of the gamma-glutamyl cycle characterized by 5-oxoprolinuria. Manifestations can include renal stone formation, enterocolitis, intellectual deficiency, neonatal hypoglycemia, microcytic anemia and microcephaly.;

ICD-11 synonym : 5-oxoprolinase deficiency;

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5-Oxoprolinase deficiency is a clinically heterogeneous disorder of the gamma-glutamyl cycle characterized by 5-oxoprolinuria. Manifestations can include renal stone formation, enterocolitis, intellectual deficiency, neonatal hypoglycemia, microcytic anemia and microcephaly.

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07/05/2025


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