A Case Report on a Patient with Glutathione Synthetase Deficiency and Her Outcomes

Background: Glutathione synthetase deficiency (GSSD) is a rare autosomal recessive disorder linked to glutathione metabolism. In severe cases, it is characterized by significant metabolic acidosis, hemolytic anemia, and various neurological complications. Biochemical analyses typically reveal considerable urinary excretion of 5-oxoproline. Case Presentation: Here, we present a case involving a three-day-old infant with a birth weight of 3.3 kg, who was admitted due to cyanosis and grunting. The infant’s parents were consanguineous. The family had a history of a previous child who succumbed at the age of 2 months with similar symptoms and high anion gap metabolic acidosis. Laboratory tests indicated severe metabolic acidosis along with a marked increase in 5-oxoproline among the organic acids in the urine. The infant received treatment with vitamins C and E. On follow-up at 7 years and 6 months of age, the child demonstrated expected normal developmental progress but was prescribed anti-epileptic medications due to recurrent seizures, occurring four times. Conclusion: We recommend that GSSD be considered in cases of metabolic acidosis and hemolytic anemia in neonates. Early diagnosis and timely therapeutic interventions may lead to improved clinical outcomes.