Gas Chromatography Mass Spectrometry Aided Diagnosis of Glutathione Synthetase Deficiency

Lab Med. 2022 May 5;53(3):e59-e61. doi: 10.1093/labmed/lmab084.

Abstract

Glutathione synthetase (GSS) deficiency is a rare disorder, occurring with a frequency of less than 1 in 100,000 individuals worldwide. The clinical presentation may vary from mild to severe, and manifestations include hemolytic anemia, hyperbilirubinemia, metabolic acidosis, neurological problems, and sepsis. Herein, we present a case of a newborn boy with the most severe phenotype of GSS deficiency, diagnosed based on clinical features and increased urinary 5-oxoproline levels determined via gas chromatography mass spectrometry (GCMS) testing.

Keywords: 5-oxoproline; GCMS; glutathione synthetase; hemolyticanemia; high anion gap; metabolic acidosis.

Publication types

  • Case Reports

MeSH terms

  • Acidosis*
  • Amino Acid Metabolism, Inborn Errors* / diagnosis
  • Amino Acid Metabolism, Inborn Errors* / genetics
  • Amino Acid Metabolism, Inborn Errors* / metabolism
  • Gas Chromatography-Mass Spectrometry
  • Glutathione Synthase / deficiency
  • Glutathione Synthase / genetics
  • Glutathione Synthase / metabolism
  • Humans

Substances

  • Glutathione Synthase

Supplementary concepts

  • Glutathione synthetase deficiency