Journal
LABORATORY MEDICINE
Volume 53, Issue 3, Pages E59-E61Publisher
OXFORD UNIV PRESS
DOI: 10.1093/labmed/lmab084
Keywords
glutathione synthetase; 5-oxoproline; metabolic acidosis; hemolyticanemia; high anion gap; GCMS
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This article presents a case of severe GSS deficiency in a newborn boy, diagnosed based on clinical features and increased urinary 5-oxoproline levels determined via GCMS testing.
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.
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