Pyrimidine metabolism disease
MONDO:0037937A 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
19 clinical trials for this condition and its sub-types.
Follow this condition — get notified about new trialsSub-types
Dihydropyrimidine dehydrogenase deficiency
(3)
Mitochondrial DNA depletion syndrome, myopathic form
(3)
Mitochondrial neurogastrointestinal encephalomyopathy
(3)
Beta-ureidopropionase deficiency
(1)
Dihydropyrimidinuria
(1)
Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
(1)
Orotic aciduria
(1)
Developmental and epileptic encephalopathy, 50
(0)
Hyper-beta-alaninemia
(0)
Inborn disorder of pyrimidine metabolism
(0)
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)