hypoxanthine-guanine phosphoribosyltransferase 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. hypoxanthine-guanine phosphoribosyltransferase 1 deficiency HPRT1 deficiency Orphanet:206428 SCTID:124275001 icd11.foundation:1293396861 ICD9:277.6 HPRT deficiency GARD:0002943 UMLS:C5848153 NANDO:2200586 MONDO:0016088 MEDGEN:1852368 inborn disorder of purine metabolism obsolete nephropathy secondary to a storage or other metabolic disease vitamin B12- and folate-independent constitutional megaloblastic anemia