title: A newborn infant with generalized glutathione synthetase deficiency.
abstract: Pyroglutamic aciduria (5-oxoprolinuria) is a rare autosomal recessive disorder caused by either glutathione synthetase deficiency (GSSD) 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 female infant who had a severe metabolic acidosis with high anion gap, hemolytic anemia, and hyperbilirubinemia. High level of 5-oxoproline was detected in her urine and a diagnosis of generalized GSSD was made. She died of severe metabolic acidosis and sepsis at the age of six weeks.
authors.affiliation: Division of Neonatology, Department of Pediatrics, Cukurova University Faculty of Medicine, Adana, Turkey.
authors.forename: Hacer
authors.initials: H
authors.lastname: Yapicioğlu
authors.forename: Mehmet
authors.initials: M
authors.lastname: Satar
authors.forename: Ercan
authors.initials: E
authors.lastname: Tutak
authors.forename: Nejat
authors.initials: N
authors.lastname: Narli
authors.forename: A Kemal
authors.initials: AK
authors.lastname: Topaloğlu
mesh_terms: D000138:Acidosis / Q000209:etiology; D017809:Fatal Outcome; D005260:Female; D005981:Glutathione Synthase / Q000172:deficiency* / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000235:genetics; D011761:Pyrrolidonecarboxylic Acid / Q000652:urine
chemical_list: D005981:Glutathione Synthase; D011761:Pyrrolidonecarboxylic Acid