Other Names: Oxoprolinuria due to 5-oxoprolinase deficiency; 5-alpha-oxoprolinase deficiency
A very heterogeneous condition characterized by 5-oxoprolinuria.
It has been detected in eight patients worldwide. All affected patients have been identified because of 5-oxoprolinuria.
5-Oxoprolinase catalyses a step in the gamma-glutamyl cycle (glutathione metabolism).
The disease is transmitted as an autosomal recessive trait.
Signs and symptoms
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 , diet (certain infant formulas and tomato juice), severe burns, Stevens-Johnson syndrome , 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 , drug metabolism (paracetamol, vigabatrin, flucloxacillin, netilmicin), prematurity, malnutrition, pregnancy and nephropatic cystinosis.
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.
NIH genetic and rare disease info
5-oxoprolinase deficiency is a rare disease.