Rare Case of an Infant with Glutathione Synthetase Deficiency

Abstract

An infant has generalized Glutathione Synthetase Deficiency. Pyroglutamic Aciduria (5-Oxoprolinuria) is a rare autosomal recessive disorder caused by either Glutathione Synthetase Deficiency or 5-Oxoprolinase Deficiency. The severe form of the disease, generalized GSSD, 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.