A rare case of Glutathione Synthetase Deficiency in a newborn with normal neurological development on follow-up

Abstract

Glutathione synthetase deficiency (GSSD) is a rare metabolic disorder manifesting in early newborn period, characterized by hemolytic anemia, metabolic acidosis, 5-oxoprolinuria. In severe cases, neurological impairment may occur as well. The diagnosis can be suspected clinically and confirmed by urine gas chromatography mass spectrometry (GCMS) and genetic analysis. The case reported here is of a newborn presenting with sepsis-like features at day 3 of life. The blood investigations revealed hemolysis and metabolic acidosis, and after ruling out other causes of the latter, the possibility of GSSD was considered, which was supported by elevated levels of 5-oxoproline in urine. He was managed with soda bicarbonate and antioxidants and is under follow-up with normal neurological status till writing of this report. The case highlights the importance of early recognition and diagnosis of metabolic disorders by being aware of the clinical presentation of these rare conditions, to prevent delay in initiation of treatment for better outcome.

Keywords: Antioxidants; Glutathione synthetase deficiency; Hemolytic anemia; Metabolic acidosis; Metabolic disorders.