3.1.b

Disorders of purine metabolism

  • Phosphoribosylpyrophosphate synthetase superactivity
  • Phosphoribosylpyrophosphate synthetase deficiency
  • Phosphoribosylaminoimidazole carboxylase deficiency
  • Adenylosuccinate lyase deficiency
  • AICAR transformylase/IMP cyclohydrolase deficiency (AICA-ribosiduria)
  • Myoadenylate deaminase deficiency (Myoadenylate deaminase deficiency)
  • Adenosine monophosphate deaminase 2 deficiency (Pontocerebellar hypoplasia type 9, severe; autosomal recessive spastic paraplegia type 63, milder)
  • Erythrocyte adenosine monophosphate deaminase 3 deficiency
  • Adenosine deaminase 1 deficiency
  • Adenosine deaminase superactivity
  • Adenosine deaminase 2 deficiency
  • Purine nucleoside phosphorylase deficiency
  • FAMIN deficiency
  • Xanthine oxidase deficiency (Xanthinuria type 1)
  • Hypoxanthine guanine phosphoribosyltransferase deficiency (Lesch-Nyhan syndrome, severe; Kelley-Seegmiller syndrome, milder)
  • Adenine phosphoribosyltransferase deficiency
  • Adenylate kinase 1 deficiency
  • Adenylate kinase 2 deficiency (Reticular dysgenesis)
  • Adenylate kinase 7 deficiency (Primary male infertility with multiple morphological anomalies of the flagella)
  • Adenylosuccinate synthase-like 1 deficiency (Distal myopathy type 5)
  • Inosine-5′-monophosphate dehydrogenase deficiency (Retinitis pigmentosa type 1; Leber congenital amaurosis type 11)
  • Thiopurine methyltransferase deficiency
  • NUDT15 deficiency
  • Inosine triphosphatase deficiency (Early infantile epileptic encephalopathy type 35)
  • Urate transporter 1 deficiency (Hereditary renal hypouricemia type 1)
  • Urate voltage-driven efflux transporter 1 deficiency (Hereditary renal hypouricemia type 2)

Subnetworks

Immagini SNW 344 x 258 px 1

NOMS

Disorders of neuromodulators and other small molecules

Hey, want to upgrade to pro plan?

18748

Upgrade Now

& get 25% off

Offer valid only for 24 hrs.

18749
Scroll to Top