A Rare Cause of Neonatal Hemolytic Anemia: Glutathione Synthetase Deficiency
Journal of Pediatric Hematology/Oncology, cilt.40, sa.1, 2018 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 40 Sayı: 1
- Basım Tarihi: 2018
- Doi Numarası: 10.1097/mph.0000000000000811
- Dergi Adı: Journal of Pediatric Hematology/Oncology
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Anahtar Kelimeler: anemia, metabolic acidosis, glutathione synthetase deficiency
- Sağlık Bilimleri Üniversitesi Adresli: Evet
Özet
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.