Inherited hyperuricemic disorders.
Inherited hyperuricemic disorders fall into two major classes, metabolic overproduction of purines and renal tubular undersecretion. The aim was to explore both. Methodology was a combination of personal experience and review of relevant literature. The overproduction of hyperuricemias result from deficiency of hypoxanthine-guanine phosphoribosyl transferase, overactivity of phosphoribosylpyrophosphate synthetase and deficiency of glucose-6-phosphatase. The undersecretion disorders are autosomal dominantly inherited and are heterogeneous. A major number of these patients result from mutations in the gene that codes for uromodulin. Treatment is with allopurinol.
Nyhan
William L
WL
University of California, San Diego, La Jolla, Calif., USA.
D006008:Glycogen Storage Disease; D006801:Humans; D033461:Hyperuricemia / Q000151:congenital* / Q000378:metabolism / Q000628:therapy; D007041:Hypoxanthine Phosphoribosyltransferase / Q000378:metabolism; D007684:Kidney Tubules / Q000378:metabolism; D007926:Lesch-Nyhan Syndrome / Q000378:metabolism; D011687:Purines / Q000378:metabolism; D012268:Ribose-Phosphate Pyrophosphokinase / Q000172:deficiency / Q000235:genetics
D011687:Purines; D007041:Hypoxanthine Phosphoribosyltransferase; D012268:Ribose-Phosphate Pyrophosphokinase