The Turkish Journal of Pediatrics 2004 , Vol 46 , Num 1
A newborn infant with generalized glutathione synthetase deficiency

Divisions of Neonatology, Department of Pediatrics,Çukurova University Faculty of Medicine, Adana, Turkey.

Endocrinology and Metabolism, Department of Pediatrics,Çukurova University Faculty of Medicine, Adana, Turkey.

Abstract

Yapıcıoğlu H, Satar M, Tutak E, Narlı N, Topaloğlu AK. A newborn infant with generalized glutathione synthetase deficiency. Turk J Pediatr 2004; 46: 72-75.

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.

Keywords : glutathione synthetase deficiency newborn.
Copyright © 2016 turkishjournalpediatrics.org