A case of a compound heterozygote for adenine phosphoribosyltransferase deficiency (APRT*J/APRT*Q0) leading to 2,8-dihydroxyadenine urolithiasis: review of the reported cases with 2,8-dihydroxyadenine stones in Japan.

A case of a compound heterozygote for adenine phosphoribosyltransferase deficiency (APRTJ/APRTQ0) leading to 2,8-dihydroxyadenine urolithiasis: review of the reported cases with 2,8-dihydroxyadenine stones in Japan.

Abstract	We report a case of a compound heterozygote for adenine phosphoribosyltransferase deficiency (APRTJ/APRTQ0) leading to 2,8-dihydroxyadenine urolithiasis. Polymerase chain reaction-single strand conformation polymorphism analysis demonstrated that APRTJ and APRTQ0 alleles from the father and mother, respectively, had been transmitted to the patient. We also reviewed the literature regarding Japanese patients with 2,8-dihydroxyadenine urolithiasis. There seemed to be little difference in clinical course between type 2 homozygotes and compound heterozygotes. However, hemolysate APRT activities of compound heterozygotes were lower than those of type 2 homozygotes.
Authors	H Takeuchi, Y Kaneko, J Fujita, O Yoshida
Journal	The Journal of urology (J Urol) Vol. 149 Issue 4 Pg. 824-6 (Apr 1993) ISSN: 0022-5347 [Print] United States
PMID	8455250 (Publication Type: Case Reports, Journal Article, Review)
Chemical References	2,8-dihydroxyadenine Adenine Phosphoribosyltransferase Adenine
Topics	Adenine (analogs & derivatives, analysis) Adenine Phosphoribosyltransferase (deficiency, genetics) Heterozygote Humans Infant Japan (epidemiology) Male Polymerase Chain Reaction Urinary Calculi (chemistry, epidemiology, genetics)

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