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A very heterogeneous condition characterized by 5-oxoprolinuria.
ORPHA:33572Classification level: Disorder
It has been detected in eight patients worldwide. All affected patients have been identified because of 5-oxoprolinuria.
Symptoms reported in individual patients include renal stone formation, enterocolitis, intellectual deficiency, neonatal hypoglycemia, microcytic anemia and microcephaly.
5-Oxoprolinase catalyses a step in the gamma-glutamyl cycle (glutathione metabolism).
The diagnosis is based on the finding of 5-oxoprolinuria and on the low activity of 5-oxoprolinase.
Other causes of 5-oxoprolinuria include glutathione synthetase deficiency (see this term), diet (certain infant formulas and tomato juice), severe burns, Stevens-Johnson syndrome (see this term), inborn errors of metabolism not involving the gamma-glutamyl cycle, e.g. X-linked ornithine trancarbamylase deficiency, urea cycle defects, or tyrosinemia, as well as homocystinuria (see these terms), drug metabolism (paracetamol, vigabatrin, flucloxacillin, netilmicin), prematurity, malnutrition, pregnancy and nephropatic cystinosis.
The disease is transmitted as an autosomal recessive trait.
Management and treatment
No specific treatment has been proposed or tested.
The prognosis is difficult to predict as only eight patients with different clinical symptoms have been described.
A summary on this disease is available in Português (2003) Deutsch (2007) Italiano (2007) Español (2007) Français (2007) Nederlands (2007)
Disease review articles
- Review article
- English (2007) - Orphanet J Rare Dis
: produced/endorsed by FSMR(s)