A Rare Cause of Neonatal Hemolytic Anemia: Glutathione Synthetase Deficiency.
J Pediatr Hematol Oncol
; 40(1): e45-e49, 2018 01.
Article
em En
| MEDLINE
| ID: mdl-28267090
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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Erros Inatos do Metabolismo dos Aminoácidos
/
Glutationa Sintase
/
Anemia Hemolítica
Tipo de estudo:
Diagnostic_studies
/
Etiology_studies
Limite:
Female
/
Humans
/
Newborn
Idioma:
En
Ano de publicação:
2018
Tipo de documento:
Article