5-oxoprolinase deficiency

Other Names: Oxoprolinuria due to 5-oxoprolinase deficiency; 5-alpha-oxoprolinase deficiency

A very heterogeneous condition characterized by 5-oxoprolinuria.

Epidemiology

It has been detected in eight patients worldwide. All affected patients have been identified because of 5-oxoprolinuria.

Cause

5-Oxoprolinase catalyses a step in the gamma-glutamyl cycle (glutathione metabolism).

Inheritance

Autosomal recessive inheritance, a 25% chance

The disease is transmitted as an autosomal recessive trait.

Signs and symptoms

Symptoms reported in individual patients include renal stone formation, enterocolitis, intellectual deficiency, neonatal hypoglycemia, microcytic anemia and microcephaly.

Diagnosis

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

No specific treatment has been proposed or tested.

Prognosis

The prognosis is difficult to predict as only eight patients with different clinical symptoms have been described.

NIH genetic and rare disease info

• NIH info on 5-oxoprolinase deficiency

5-oxoprolinase deficiency is a rare disease.