Inborn disorder of purine metabolism

Part of

Sub-types of Inborn disorder of purine metabolism

• Adenine phosphoribosyltransferase deficiency 6 trials
• Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency 6 trials
• Adenylosuccinate lyase deficiency 2 trials
• Purine nucleoside phosphorylase deficiency 2 trials
• AICA-ribosiduria 1 trial
• Adenosine monophosphate deaminase deficiency 1 trial
• Developmental and epileptic encephalopathy, 35 1 trial
• Phosphoribosylpyrophosphate synthetase superactivity 1 trial
  2 sub-types

  • Mild phosphoribosylpyrophosphate synthetase superactivity 0 trials
  • Severe phosphoribosylpyrophosphate synthetase superactivity 0 trials
• Hereditary xanthinuria 0 trials · 1 incl. sub-types
  2 sub-types

  • Xanthinuria type I 1 trial
  • Xanthinuria type II 0 trials
• Hypoxanthine-guanine phosphoribosyltransferase deficiency 0 trials · 1 incl. sub-types
  2 sub-types

  • Lesch-Nyhan syndrome 1 trial Sub-types →
  • Hypoxanthine guanine phosphoribosyltransferase partial deficiency 0 trials
• Charcot-Marie-Tooth disease X-linked recessive 5 0 trials
• PAICS deficiency 0 trials
• X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome 0 trials
• Familial juvenile hyperuricemic nephropathy type 1 0 trials
• Hemolytic anemia due to erythrocyte adenosine deaminase overproduction 0 trials
• Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) 0 trials