Purine metabolism disease
MONDO:0037829A disease that has its basis in the disruption of purine nucleobase metabolic process.
Also known as: disorder of purine metabolism, disorder of purine nucleobase metabolic process, purine nucleobase metabolic process disease
21 clinical trials for this condition and its sub-types.
Follow this condition — get notified about new trialsSub-types
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
(6)
Adenine phosphoribosyltransferase deficiency
(3)
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)
Inborn disorder of purine metabolism
(0)
Lesch-Nyhan phenotype with normal HGPRT
(0)
Mild phosphoribosylpyrophosphate synthetase superactivity
(0)
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
(0)