1.1.a

Urea cycle disorders and inherited hyper ammonemias

  • N-acetylglutamate synthase deficiency
  • Carbamoyl phosphate synthetase 1 deficiency
  • Ornithine transcarbamylase deficiency
  • Argininosuccinate synthetase deficiency (Citrullinemia type 1)
  • Argininosuccinate lyase deficiency (Argininosuccinase deficiency; argininosuccinic aciduria) Arginase deficiency (Argininemia)
  • Mitochondrial ornithine transporter deficiency (Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome; ornithine translocase deficiency)
  • Citrin deficiency
  • Carbonic anhydrase VA deficiency
  • Glutamate dehydrogenase superactivity (Hyperinsulinism-hyperammonemia syndrome; familial hyperinsulinemic hypoglycemia type 6)

Subnetworks

AOA 1

AOA

Aminoacid and organic acids related disorders

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