title: [Glutathion-synthetase deficiency with 5-oxoprolinuria. Two new cases and a review of the literature (author's transl)].
abstract: 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.
mesh_terms: D000745:Anemia, Hemolytic, Congenital / Q000201:enzymology* / Q000209:etiology; D002675:Child, Preschool; D005260:Female; D005980:Glutathione Reductase / Q000097:blood; D005981:Glutathione Synthase / Q000097:blood*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008661:Metabolism, Inborn Errors / Q000150:complications* / Q000201:enzymology; D010453:Peptide Synthases / Q000097:blood*; D011760:Pyrrolidinones / Q000652:urine*; D011761:Pyrrolidonecarboxylic Acid / Q000652:urine*
chemical_list: D011760:Pyrrolidinones; D005980:Glutathione Reductase; D010453:Peptide Synthases; D005981:Glutathione Synthase; D011761:Pyrrolidonecarboxylic Acid
vernacular_title: Déficit en glutathion-synthétase avec 5-oxoprolinurie. Deux nouveaux cas et revue de la littérature.