Catalog

Oxoprolinuria

No MMS code

Link to WHO Definition

Oxoprolinuria – http://id.who.int/icd/entity/589223356

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