[Glutathion-synthetase deficiency with 5-oxoprolinuria. Two new cases and a review of the literature (author's transl)].

Hereditary deficiency in glutathion- synthetase is a rare disease presenting up to now either with a congenital non-spherocytic anaemia or with a metabolic acidosis, most often neonatal and accompanied by a pyroglutamic amino-aciduria (5-oxoprolinuria). These two syndrome may be present together or exist independently. Pyroglutamic amino-aciduria is the result of extension of the deficiency to non-haematopoietic cells, in particular renal. Two new cases of glutathion-synthetase deficiency are reported: both with haemolytic anaemia and moderate pyroglutamic amino-aciduria, in the absence of clinical signs of metabolic acidosis. The clinical, haematological and biochemical heterogeneity of the deficiency is illustrated by these two cases and datas from the literature.