1.01.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
Aminoacid and organic acids related disorders
