A Rare Cause of Neonatal Hemolytic Anemia: Glutathione Synthetase Deficiency

J Pediatr Hematol Oncol. 2018 Jan;40(1):e45-e49. doi: 10.1097/MPH.0000000000000811.


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.

Publication types

  • Case Reports

MeSH terms

  • Amino Acid Metabolism, Inborn Errors / complications
  • Amino Acid Metabolism, Inborn Errors / diagnosis*
  • Amino Acid Metabolism, Inborn Errors / genetics
  • Anemia, Hemolytic / etiology*
  • Anemia, Hemolytic / genetics
  • Anemia, Hemolytic, Congenital / etiology
  • Anemia, Hemolytic, Congenital / genetics
  • Diagnosis, Differential
  • Female
  • Glutathione Synthase / deficiency*
  • Glutathione Synthase / genetics
  • Humans
  • Infant, Newborn
  • Infant, Newborn, Diseases / diagnosis
  • Infant, Newborn, Diseases / genetics
  • Mutation


  • Glutathione Synthase

Supplementary concepts

  • Glutathione synthetase deficiency