Complete Adenine Phosphoribosyltransferase Deficiency with 2,8-Dihydroxyadenine Stone Formation
In 1968 Kelley (1) described for the first time a patient with a partial adenine phosphoribosyltransferase (APRT) deficiency. Since that time many families have been found with this abnormality in,the heterozygous state. Though in some families gout could be detected, no consistent correlation with gout or hyperuricemia was noted. No clinical disorder has yet been found to be consistently associated with a partial deficiency of APRT. The incidence in the population has been estimated to be 0.5 to 1% (2).
KeywordsUric Acid Xanthine Oxidase Stone Formation Potassium Citrate Enzyme Defect
Unable to display preview. Download preview PDF.
- 3.Cartier, R. and Hamet, M.: Une nouvelle maladie métabolique: Le deficit complet en adenine phosphoribosyltransf erase avec lithiase de 2,8-dihydroxyadenine. C.R. Acad. Sci. 297: 883, 1974.Google Scholar
- 5.Schabel, F., Doppier, W., Hirsch-Kauffmann, M., Schweiger, M., Berger, H. and Heinz-Frian, P.: Hereditary deficiency of adenine phosphoribosyltransferase. Pädiat. Pädol., 15: 233, 1980.Google Scholar
- 6.Joost, J. and Doppier, W.: The 2,8-dihydroxyadenine stone in childhood, (in press)Google Scholar