Inborn disorder of pyrimidine metabolism

MONDO:0019238

ANPM

Also known as: inborn error of pyrimidine nucleobase metabolic process, inborn pyrimidine nucleobase metabolic process disorder, pyrimidine metabolic disorder, rare inborn error of pyrimidine nucleobase metabolic process, disorder of pyrimidine metabolism

11 clinical trials for this condition and its sub-types, 0 tagged with Inborn disorder of pyrimidine metabolism itself.

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Where it sits in the disease tree

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Part of

↑ Inborn disorder of purine or pyrimidine metabolism (50) ↑ Pyrimidine metabolism disease (11)

Sub-types of Inborn disorder of pyrimidine metabolism

Mitochondrial DNA depletion syndrome, myopathic form 4 trials
Mitochondrial neurogastrointestinal encephalomyopathy 4 trials
4 sub-types
- Mitochondrial DNA depletion syndrome 1 0 trials
- Mitochondrial DNA depletion syndrome 20 (mngie type) 0 trials
- Mitochondrial DNA depletion syndrome 4b 0 trials
- Mitochondrial DNA depletion syndrome 8a 0 trials
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
1 sub-type
- Orotic aciduria without megaloblastic anemia 0 trials
Developmental and epileptic encephalopathy, 50 0 trials
Hyper-beta-alaninemia 0 trials

Including sub-types (11) Tagged with Inborn disorder of pyrimidine metabolism (0)

Trials to join now! 6 Not yet finished but already full! 4 Completed 1

New drug cocktail shows promise for rare muscle disease

Disease control Completed

This phase 2 study tests a combination of two nucleoside drugs, doxecitine and doxribtimine, in 47 people with thymidine kinase 2 (TK2) deficiency, a rare genetic disorder that weakens muscles. Participants already receiving nucleoside therapy continue treatment to see if the dru…

Phase 2 • Sponsor: UCB BIOSCIENCES, Inc. • Aim: Disease control

Last updated Sep 10, 2026 00:00 UTC

Inborn disorder of pyrimidine metabolism

Where it sits in the disease tree

New drug cocktail shows promise for rare muscle disease