Glutathione synthetase deficiency

Abstract

It is a rare genetically determined autosomal recessive disorder characterized by metabolic acidosis, haemolytic anemia and neurological involvement along with marked excretion of 5-oxo-proline in the urine that is pathognomonic of this disorder. 1We report a 3 months old infant who presented with respiratory distress, loose motions and hepato-splenomegaly. Laboratory investigations show high anion gap severe metabolic acidosis, urinary organic acids study shows marked elevation of 5-oxo-proline in the urine.