1.2.a

Disorders of glutathione metabolism

  • Gamma-glutamylcysteine synthetase deficiency (Glutamate-cysteine ligase deficiency)
  • Glutathione synthetase deficiency
  • Gamma-glutamyl transpeptidase deficiency (Glutathioninuria; γ-glutamyl transferase deficiency)
  • Dipeptidase deficiency (Cysteinylglycinuria)
  • 5-Oxoprolinase deficiency
  • Glutathione reductase deficiency
  • Glutathione peroxidase 4 deficiency (Spondylometaphyseal dysplasia, Sedaghatian type)
  • NRF2 superactivity (Immunodeficiency, developmental delay, and hypohomocysteinemia – IEMDHH)

Subnetworks

AOA 1

AOA

Aminoacid and organic acids related disorders

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