Inborn disorder of purine or pyrimidine metabolism

Part of

Sub-types of Inborn disorder of purine or pyrimidine metabolism

• Disorder of glycolysis 1 trial · 27 incl. sub-types
  16 sub-types

  • Maturity-onset diabetes of the young 8 trials · 13 incl. sub-types Sub-types →
  • Pyruvate kinase deficiency of red cells 10 trials
  • Permanent neonatal diabetes mellitus 2 trials Sub-types →
  • Glycogen storage disease VII 1 trial
  • Glycogen storage disease due to aldolase A deficiency 1 trial
  • Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency 1 trial
  • Glycogen storage disease due to muscle beta-enolase deficiency 1 trial
  • Glycogen storage disease due to phosphoglycerate mutase deficiency 1 trial
  • Charcot-Marie-Tooth disease type 4G 0 trials
  • Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency 0 trials
  • Glycogen storage disease due to phosphoglycerate kinase 1 deficiency 0 trials
  • Hemolytic anemia due to glucophosphate isomerase deficiency 0 trials
  • Hyperinsulinemic hypoglycemia, familial, 3 0 trials
  • Lactic aciduria due to D-lactic acid 0 trials
  • Non-spherocytic hemolytic anemia due to hexokinase deficiency 0 trials
  • Triosephosphate isomerase deficiency 0 trials
• Inborn disorder of purine metabolism 0 trials · 14 incl. sub-types
  16 sub-types

  • 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
  • Hereditary xanthinuria 0 trials · 1 incl. sub-types Sub-types →
  • Hypoxanthine-guanine phosphoribosyltransferase deficiency 0 trials · 1 incl. sub-types Sub-types →
  • Phosphoribosylpyrophosphate synthetase superactivity 1 trial Sub-types →
  • 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
• Inborn disorder of pyrimidine metabolism 0 trials · 11 incl. sub-types
  9 sub-types

  • Mitochondrial DNA depletion syndrome, myopathic form 4 trials
  • Mitochondrial neurogastrointestinal encephalomyopathy 4 trials Sub-types →
  • Dihydropyrimidine dehydrogenase deficiency 3 trials
  • Beta-ureidopropionase deficiency 1 trial
  • Dihydropyrimidinuria 1 trial
  • Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency 1 trial
  • Orotic aciduria 1 trial Sub-types →
  • Developmental and epileptic encephalopathy, 50 0 trials
  • Hyper-beta-alaninemia 0 trials
• Phosphoribosylpyrophosphate synthetase deficiency 0 trials