A newborn infant with generalized glutathione synthetase deficiency.
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.
Yapicioğlu
Hacer
H
Division of Neonatology, Department of Pediatrics, Cukurova University Faculty of Medicine, Adana, Turkey.
Satar
Mehmet
M
Tutak
Ercan
E
Narli
Nejat
N
Topaloğlu
A Kemal
AK
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
D005981:Glutathione Synthase; D011761:Pyrrolidonecarboxylic Acid