Pyrimidine metabolism disease

MONDO:0037937

A disease that has its basis in the disruption of pyrimidine nucleobase metabolic process.

Also known as: disorder of pyrimidine metabolism, disorder of pyrimidine nucleobase metabolic process, pyrimidine nucleobase metabolic process disease

11 clinical trials for this condition and its sub-types, 0 tagged with Pyrimidine metabolism disease itself.

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Where it sits in the disease tree

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Part of

↑ Metabolic disease (7369)

Sub-types of Pyrimidine metabolism disease

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

Most studied deeper sub-types

Mitochondrial DNA depletion syndrome 1 (0) Mitochondrial DNA depletion syndrome 20 (mngie type) (0) Mitochondrial DNA depletion syndrome 4b (0) Mitochondrial DNA depletion syndrome 8a (0) Orotic aciduria without megaloblastic anemia (0)

Including sub-types (11) Tagged with Pyrimidine metabolism disease (0)

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