Literature DB >> 8455250

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.

H Takeuchi1, Y Kaneko, J Fujita, O Yoshida.   

Abstract

We report a case of a compound heterozygote for adenine phosphoribosyltransferase deficiency (APRT*J/APRT*Q0) leading to 2,8-dihydroxyadenine urolithiasis. Polymerase chain reaction-single strand conformation polymorphism analysis demonstrated that APRT*J and APRT*Q0 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.

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Year:  1993        PMID： 8455250     DOI： 10.1016/s0022-5347(17)36222-5

Source DB:  PubMed          Journal:  J Urol        ISSN： 0022-5347            Impact factor:   7.450


  3 in total

1.  Quantitative UPLC-MS/MS assay of urinary 2,8-dihydroxyadenine for diagnosis and management of adenine phosphoribosyltransferase deficiency.

Authors:  Margret Thorsteinsdottir; Unnur A Thorsteinsdottir; Finnur F Eiriksson; Hrafnhildur L Runolfsdottir; Inger M Sch Agustsdottir; Steinunn Oddsdottir; Baldur B Sigurdsson; Hordur K Hardarson; Nilesh R Kamble; Snorri Th Sigurdsson; Vidar O Edvardsson; Runolfur Palsson
Journal:  J Chromatogr B Analyt Technol Biomed Life Sci       Date:  2016-09-14       Impact factor: 3.205

2.  Two families with compound heterozygosity for adenine phosphoribosyltransferase deficiency.

Authors:  Takuma Iwaki; Takashi Kusaka; Ikuko Ohashi; Tomoko Nishida; Tadashi Imai; Susumu Itoh
Journal:  Pediatr Nephrol       Date:  2010-01-26       Impact factor: 3.714

3.  Allele frequency of variants reported to cause adenine phosphoribosyltransferase deficiency.

Authors:  Hrafnhildur L Runolfsdottir; John A Sayer; Olafur S Indridason; Vidar O Edvardsson; Brynjar O Jensson; Gudny A Arnadottir; Sigurjon A Gudjonsson; Run Fridriksdottir; Hildigunnur Katrinardottir; Daniel Gudbjartsson; Unnur Thorsteinsdottir; Patrick Sulem; Kari Stefansson; Runolfur Palsson
Journal:  Eur J Hum Genet       Date:  2021-03-11       Impact factor: 5.351
  3 in total

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