Catalog

Hypoxanthine-guanine phosphoribosyltransferase deficiency

No MMS code

Link to WHO Definition

Hypoxanthine-guanine phosphoribosyltransferase deficiency – http://id.who.int/icd/entity/1293396861

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. Two forms of the disease have been described: LNS, the most severe form, with a complete enzyme deficiency, and Lesch-Nyhan variants with partial HPRT deficiency (Kelley-Seegmiller syndrome).