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Hypoxanthine-guanine phosphoribosyltransferase deficiency

rare

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.

Identifiers
MONDO:0016088 Orphanet:206428
Part of
Inborn disorder of purine metabolism
Also known as
HPRT deficiency · HPRT1 deficiency · hypoxanthine-guanine phosphoribosyltransferase 1 deficiency

Subtypes

All diseases Rare only
Disease Subtypes
Lesch-Nyhan syndrome 1
Hypoxanthine guanine phosphoribosyltransferase partial deficiency

Rare disease

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