Hypoxanthine-guanine phosphoribosyltransferase deficiency
MONDO:0016088Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is a hereditary disorder of purine metabolism associated with uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of the enzyme deficiency.
Also known as: HPRT deficiency, HPRT1 deficiency, hypoxanthine-guanine phosphoribosyltransferase 1 deficiency
1 clinical trial for this condition and its sub-types.
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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)
Inborn disorder of purine metabolism
(0)