Hypoxanthine-guanine phosphoribosyltransferase deficiency

MONDO:0016088

Hypoxanthine-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, 0 tagged with Hypoxanthine-guanine phosphoribosyltransferase deficiency itself.

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Part of

↑ Inborn disorder of purine metabolism (14)

Sub-types of Hypoxanthine-guanine phosphoribosyltransferase deficiency

Lesch-Nyhan syndrome 1 trial
1 sub-type
- Lesch-Nyhan phenotype with normal HGPRT 0 trials
Hypoxanthine guanine phosphoribosyltransferase partial deficiency 0 trials

Including sub-types (1) Tagged with Hypoxanthine-guanine phosphoribosyltransferase deficiency (0)

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