GTR Home > Conditions/Phenotypes > Gluthathione synthetase deficiency

Summary

Glutathione synthetase deficiency, or 5-oxoprolinuria, is an autosomal recessive disorder characterized, in its severe form, by massive urinary excretion of 5-oxoproline, metabolic acidosis, hemolytic anemia, and central nervous system damage. The metabolic defect results in decreased levels of cellular glutathione, which overstimulates the synthesis of gamma-glutamylcysteine and its subsequent conversion to 5-oxoproline (Larsson and Anderson, 2001). [from OMIM]

Available tests

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Associated genes

Clinical features

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  • Dysarthria
  • Intellectual disability
  • Abnormal retinal pigmentation
  • Seizure
  • Ataxia
  • Spastic tetraparesis
  • Psychotic mentation
  • Hemolytic anemia
  • Chronic metabolic acidosis
  • Intention tremor
  • Glutathione synthetase deficiency
  • Peripheral retinal pigmentation abnormalities
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