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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Where it sits in the disease tree

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↑ 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)

Trials to join now! 1

Scientists launch major study to unravel mysterious metabolism disorders

Knowledge-focused Recruiting now

This study aims to learn more about rare disorders that affect how the body processes chemicals called pyrimidines and purines. These disorders can cause problems in the brain, blood, kidneys, and immune system, ranging from mild to life-threatening. Researchers will compare test…

Sponsor: National Human Genome Research Institute (NHGRI) • Aim: Knowledge-focused

Last updated Aug 21, 2026 00:00 UTC

Hypoxanthine-guanine phosphoribosyltransferase deficiency

Where it sits in the disease tree

Scientists launch major study to unravel mysterious metabolism disorders