Purine metabolism disease
MONDO:0037829A disease that has its basis in the disruption of purine nucleobase metabolic process.
Also known as: disorder of purine metabolism, disorder of purine nucleobase metabolic process, purine nucleobase metabolic process disease
14 clinical trials for this condition and its sub-types, 0 tagged with Purine metabolism disease itself.
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Sub-types of Purine metabolism disease
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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
Most studied deeper sub-types
Lesch-Nyhan syndrome
(1)
Xanthinuria type I
(1)
Hypoxanthine guanine phosphoribosyltransferase partial deficiency
(0)
Lesch-Nyhan phenotype with normal HGPRT
(0)
Mild phosphoribosylpyrophosphate synthetase superactivity
(0)
Severe phosphoribosylpyrophosphate synthetase superactivity
(0)
Xanthinuria type II
(0)
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