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Inborn disorder of purine or pyrimidine metabolism

MONDO:0019254

Also known as: inborn purine-pyrimidine metabolic disorder, disorder of purine or pyrimidine metabolism, purine-pyrimidine metabolic disorder

49 clinical trials for this condition and its sub-types.

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Sub-types

Pyruvate kinase deficiency of red cells (10) Maturity-onset diabetes of the young (8) Adenine phosphoribosyltransferase deficiency (6) Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency (6) Maturity-onset diabetes of the young type 2 (4) Mitochondrial neurogastrointestinal encephalomyopathy (4) Dihydropyrimidine dehydrogenase deficiency (3) Mitochondrial DNA depletion syndrome, myopathic form (3) Adenylosuccinate lyase deficiency (2) Permanent neonatal diabetes mellitus (2) Purine nucleoside phosphorylase deficiency (2) Adenosine monophosphate deaminase deficiency (1) AICA-ribosiduria (1) Beta-ureidopropionase deficiency (1) Developmental and epileptic encephalopathy, 35 (1) Dihydropyrimidinuria (1) Disorder of glycolysis (1) Glycogen storage disease due to aldolase A deficiency (1) Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency (1) Glycogen storage disease due to muscle beta-enolase deficiency (1)

Broader categories

Disease (680) Metabolic disease (233) Hereditary disease (176) Inborn errors of metabolism (45) Human disease (14) Disease of genetic or genomic mechanism (2) Disease by developmental or physiological process (0) Disease by etiologic mechanism (0)
Trials to join now! 24 Not yet recruiting 2 Not yet finished but already full! 13 Completed 10
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