Details of Disease
General Information of Disease (ID: DIS92BAW)
| Disease Name | Hypoxanthine-guanine phosphoribosyltransferase deficiency | ||||
|---|---|---|---|---|---|
| Synonyms | hypoxanthine-guanine phosphoribosyltransferase 1 deficiency; HPRT deficiency; HPRT1 deficiency | ||||
| Definition |
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.
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