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Turk J Pediatr. 2004 Jan-Mar;46(1):72-5.

A newborn infant with generalized glutathione synthetase deficiency.

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  • 1Division of Neonatology, Department of Pediatrics, Cukurova University Faculty of Medicine, Adana, Turkey.

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.

PMID:
15074378
[PubMed - indexed for MEDLINE]
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