3.1.a

Disorders of pyrimidine metabolism

  • CAD trifunctional protein deficiency
  • Dihydroorotate dehydrogenase deficiency (Postaxial acrofacial dysostosis; Miller syndrome; Genée–Wiedemann syndrome)
  • Uridine monophosphate synthase deficiency (Hereditary orotic aciduria)
  • dUTP pyrophosphatase deficiency
  • Deoxythymidylate kinase deficiency
  • CTP synthase 1 deficiency (Immunodeficiency type 24)
  • Pyrimidine nucleoside transporter deficiency (Uridine-cytidineuria)
  • Cytosolic pyrimidine 5′-nucleotidase deficiency (Uridine 5’-monophosphate hydrolase 1 deficiency)
  • Dihydropyrimidine dehydrogenase deficiency
  • Dihydropyrimidinase deficiency (Dihydropyrimidinuria)
  • Beta-ureidopropionase deficiency (β-alanine synthase deficiency)
  • Hyper-beta-aminoisobutyric aciduria
  • Hyper-beta-alaninemia

Subnetworks

Immagini SNW 344 x 258 px 1

NOMS

Disorders of neuromodulators and other small molecules

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