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Inborn disorder of purine metabolism

MONDO:0019236

An inherited metabolic disease that is has its basis in the disruption of purine nucleobase metabolic process.

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

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

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Sub-types

Adenine phosphoribosyltransferase deficiency (6) Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency (6) Adenylosuccinate lyase deficiency (2) Purine nucleoside phosphorylase deficiency (2) Adenosine monophosphate deaminase deficiency (1) AICA-ribosiduria (1) Developmental and epileptic encephalopathy, 35 (1) Lesch-Nyhan syndrome (1) Phosphoribosylpyrophosphate synthetase superactivity (1) Xanthinuria type I (1) Charcot-Marie-Tooth disease X-linked recessive 5 (0) Familial juvenile hyperuricemic nephropathy type 1 (0) Hemolytic anemia due to erythrocyte adenosine deaminase overproduction (0) Hereditary xanthinuria (0) Hypoxanthine-guanine phosphoribosyltransferase deficiency (0) Hypoxanthine guanine phosphoribosyltransferase partial deficiency (0) Lesch-Nyhan phenotype with normal HGPRT (0) Mild phosphoribosylpyrophosphate synthetase superactivity (0) Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) (0) PAICS deficiency (0)

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) Inborn disorder of purine or pyrimidine metabolism (1) Disease by developmental or physiological process (0) Disease by etiologic mechanism (0) Purine metabolism disease (0)
Trials to join now! 9 Not yet finished but already full! 3 Completed 2
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