A Rare Cause of Neonatal Hemolytic Anemia: Glutathione Synthetase Deficiency. Issue 1 (January 2018)

• Record Type: Journal Article
• Authors: Soylu Ustkoyuncu, Pembe; Mutlu, Fatma Türkan; Kiraz, Aslihan; Tag Balkis, Zuhal; Yel, Sibel
• Is Part Of: Journal of pediatric hematology/oncology. Volume 40:Issue 1(2018)
• Publication Date: 2018-01
• Subjects: anemia -- metabolic acidosis -- glutathione synthetase deficiency; Pediatric hematology -- Periodicals; Tumors in children -- Periodicals; 618.9215
• DOI: 10.1097/MPH.0000000000000811
• Languages: English
• ISSNs: 1077-4114

Abstract

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.