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
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Gentler transplant shows promise for kids with blood diseases
Disease control CompletedThis study tests a milder chemotherapy and immune-suppressing regimen before a stem cell transplant for children and young adults with non-malignant blood disorders like sickle cell disease or immune deficiencies. The goal is to safely achieve donor cell engraftment with fewer si…
Phase 2 • Sponsor: Children's Hospital of Philadelphia • Aim: Disease control
Last updated Jul 23, 2026 00:00 UTC
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Could a gout drug help kids with a rare brain condition?
Disease control CompletedThis study tested the drug allopurinol in 8 children and adults with adenylosuccinate lyase deficiency (ADSL), a rare genetic disorder that can cause autism, seizures, and developmental delays. Researchers measured changes in thinking, daily skills, and seizure control over 12 mo…
Phase 2 • Sponsor: Assistance Publique - Hôpitaux de Paris • Aim: Disease control
Last updated Jun 27, 2026 09:11 UTC