A Rare Cause of Neonatal Hemolytic Anemia: Glutathione Synthetase Deficiency

A Rare Cause of Neonatal Hemolytic Anemia: Glutathione Synthetase Deficiency Background:Isolated hemolysis or hemolytic anemia and 5-oxoprolinuria are 2 distinct medical conditions in the clinical spectrum associated with glutathione synthetase deficiency.Clinical Observation:A 1-day-old female baby presented with anemia and respiratory distress. Her hemoglobin level was 9.5 g/dL and the total serum bilirubin level was 5.6 mg/dL. Metabolic acidosis was detected in her blood gas analysis. Metabolic acidosis recurred despite treatment and further investigation was required. Her 5-oxoproline level was 3815 mmol/mol creatinine in urine organic acid analysis, and a homozygous mutation [p.R125H (c.374G>A)] was found in the glutathione synthetase gene.Conclusions:GSD has been observed in very few patients and is rarely considered in the differential diagnosis of hemolytic anemia in newborns. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Journal of Pediatric Hematology / Oncology Wolters Kluwer Health

A Rare Cause of Neonatal Hemolytic Anemia: Glutathione Synthetase Deficiency

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Publisher
Wolters Kluwer
Copyright
Copyright © 2017 Wolters Kluwer Health, Inc. All rights reserved.
ISSN
1077-4114
eISSN
1536-3678
D.O.I.
10.1097/MPH.0000000000000811
Publisher site
See Article on Publisher Site

Abstract

Background:Isolated hemolysis or hemolytic anemia and 5-oxoprolinuria are 2 distinct medical conditions in the clinical spectrum associated with glutathione synthetase deficiency.Clinical Observation:A 1-day-old female baby presented with anemia and respiratory distress. Her hemoglobin level was 9.5 g/dL and the total serum bilirubin level was 5.6 mg/dL. Metabolic acidosis was detected in her blood gas analysis. Metabolic acidosis recurred despite treatment and further investigation was required. Her 5-oxoproline level was 3815 mmol/mol creatinine in urine organic acid analysis, and a homozygous mutation [p.R125H (c.374G>A)] was found in the glutathione synthetase gene.Conclusions:GSD has been observed in very few patients and is rarely considered in the differential diagnosis of hemolytic anemia in newborns.

Journal

Journal of Pediatric Hematology / OncologyWolters Kluwer Health

Published: Jan 1, 2018

References

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