5-oxoprolinase deficiency
Other Names: Oxoprolinuria due to 5-oxoprolinase deficiency; 5-alpha-oxoprolinase deficiency
A very heterogeneous condition characterized by 5-oxoprolinuria.
Epidemiology[edit | edit source]
It has been detected in eight patients worldwide. All affected patients have been identified because of 5-oxoprolinuria.
Cause[edit | edit source]
5-Oxoprolinase catalyses a step in the gamma-glutamyl cycle (glutathione metabolism).
Inheritance[edit | edit source]
The disease is transmitted as an autosomal recessive trait.
Signs and symptoms[edit | edit source]
Symptoms reported in individual patients include renal stone formation, enterocolitis, intellectual deficiency, neonatal hypoglycemia, microcytic anemia and microcephaly.
Diagnosis[edit | edit source]
The diagnosis is based on the finding of 5-oxoprolinuria and on the low activity of 5-oxoprolinase.
Differential diagnosis
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.
Treatment[edit | edit source]
No specific treatment has been proposed or tested.
Prognosis[edit | edit source]
The prognosis is difficult to predict as only eight patients with different clinical symptoms have been described.
NIH genetic and rare disease info[edit source]
5-oxoprolinase deficiency is a rare disease.
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