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Up to: Inborn disorder of purine or pyrimidine metabolism · Purine metabolism disease

Inborn disorder of purine metabolism

An inherited metabolic disease that is has its basis in the disruption of purine nucleobase metabolic process.

0 trials tagged with this condition →

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 Sub-types →
Hereditary xanthinuria 0 trials · 1 incl. sub-types Sub-types →
Hypoxanthine-guanine phosphoribosyltransferase deficiency 0 trials · 1 incl. sub-types 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