1. A Rare Cause of Neonatal Hemolytic Anemia: Glutathione Synthetase Deficiency.
- Author
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Soylu Ustkoyuncu P, Mutlu FT, Kiraz A, Tag Balkis Z, and Yel S
- Subjects
- Amino Acid Metabolism, Inborn Errors complications, Amino Acid Metabolism, Inborn Errors genetics, Anemia, Hemolytic genetics, Anemia, Hemolytic, Congenital etiology, Anemia, Hemolytic, Congenital genetics, Diagnosis, Differential, Female, Glutathione Synthase genetics, Humans, Infant, Newborn, Infant, Newborn, Diseases diagnosis, Infant, Newborn, Diseases genetics, Mutation, Amino Acid Metabolism, Inborn Errors diagnosis, Anemia, Hemolytic etiology, Glutathione Synthase deficiency
- 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.
- Published
- 2018
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