Oxoprolinuria (Q92455)
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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.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_589223356 |
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| English | Oxoprolinuria |
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. |
