syndromic neurometabolic disease with X-linked intellectual disability hypoxanthine-guanine phosphoribosyltransferase deficiency GARD:0002943 HPRT deficiency HPRT1 deficiency 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. ICD10:E79.8 ICD9:277.6 MONDO:0016088 Orphanet:206428 SCTID:124275001 hypoxanthine-guanine phosphoribosyltransferase 1 deficiency inborn disorder of purine metabolism nephropathy secondary to a storage or other metabolic disease vitamin B12- and folate-independent constitutional megaloblastic anemia