OnlineIMD

1.1        Urea cycle disorders and inherited hyperammonemias

  • Type
    Group
  • Pathway
    • Urea Cycle
  • Disease group(s)
    • 1        Disorders of amino acid metabolism
  • Child entries
    • Ornithine aminotransferase deficiency
    • Glutamate dehydrogenase superactivity
    • Carbamoyl phosphate synthetase 1 deficiency

    • Ornithine transcarbamylase deficiency
    • Pyruvate carboxylase deficiency
    • Citrullinemia
    • Citrullinemia type 1
    • GLUL-related disease
    • Argininosuccinate lyase deficiency
    • P5CS deficiency, spastic paraplegia type 9B dominant
    • Argininemia
    • Lysinuric protein intolerance
    • Mitochondrial ornithine transporter deficiency
    • N-acetylglutamate synthase deficiency
    • Transmembrane protein 70 deficiency
    • Carbonic anhydrase VA deficiency
    • Citrin deficiency