Rare Case of an Infant with Glutathione Synthetase Deficiency

Abstract

Bassem Mohamad Abou Merhi, Sirine Mneimneh, Ahmad Shatila, Mariam Rajab

An infant has generalized glutathione synthetase deficiency (GSD). Pyroglutamic aciduria (5-oxoprolinuria) is a rare autosomal recessive disorder caused by either GSD or 5-oxoprolinase Deficiency. The severe form of the disease, generalized GSD, is characterized by acute metabolic acidosis, usually present in the neonatal period with hemolytic anemia and progressive encephalopathy. We report a male infant who had a severe metabolic acidosis with high anion gap, hemolytic anemia, and hyperbilirubinemia. High level of pyruglutamic acids was detected in his urine. He passed away of severe metabolic acidosis and sepsis.