title: A Rare Cause of Neonatal Hemolytic Anemia: Glutathione Synthetase Deficiency.
abstract: Isolated hemolysis or hemolytic anemia and 5-oxoprolinuria are 2 distinct medical conditions in the clinical spectrum associated with glutathione synthetase deficiency.
  
  
  
  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.
  
  
  
  GSD has been observed in very few patients and is rarely considered in the differential diagnosis of hemolytic anemia in newborns.
authors.affiliation: Pediatric Nutrition and Metabolism Clinic.
authors.forename: Pembe
authors.initials: P
authors.lastname: Soylu Ustkoyuncu
authors.affiliation: Pediatric Hematology and Oncology Clinic.
authors.forename: Fatma Türkan
authors.initials: FT
authors.lastname: Mutlu
authors.affiliation: Genetic Clinic.
authors.forename: Aslihan
authors.initials: A
authors.lastname: Kiraz
authors.affiliation: Neonatalogy Clinic.
authors.forename: Zuhal
authors.initials: Z
authors.lastname: Tag Balkis
authors.affiliation: Pediatric Nefrology Clinic, Health Sciences University, Kayseri Training and Research Hospital, Kayseri, Turkey.
authors.forename: Sibel
authors.initials: S
authors.lastname: Yel
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D000743:Anemia, Hemolytic / Q000209:etiology* / Q000235:genetics; D000745:Anemia, Hemolytic, Congenital / Q000209:etiology / Q000235:genetics; D003937:Diagnosis, Differential; D005260:Female; D005981:Glutathione Synthase / Q000172:deficiency* / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000175:diagnosis / Q000235:genetics; D009154:Mutation
chemical_list: D005981:Glutathione Synthase