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Adenine Phosphoribosyltransferase Deficiency: 2, 8‐Dihydroxyadenine Urolithiasis in a 48‐year‐old Woman
Author(s) -
USENIUS J.P.,
RUOPURO M.L.,
USENIUS R.
Publication year - 1988
Publication title -
british journal of urology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.773
H-Index - 148
eISSN - 1464-410X
pISSN - 0007-1331
DOI - 10.1111/j.1464-410x.1988.tb04418.x
Subject(s) - adenine phosphoribosyltransferase , xanthine oxidase , allopurinol , uric acid , lesch–nyhan syndrome , enzyme , purine metabolism , urinary system , purine , hypoxanthine phosphoribosyltransferase , xanthine , medicine , endocrinology , biochemistry , chemistry , hypoxanthine guanine phosphoribosyltransferase , gene , mutant
Summary— We report the first patient in Finland and Scandinavia with a deficiency of adenine phosphoribosyltransferase (APRT). About 30 clinically affected patients have been reported in the literature. APRT deficiency is an enzyme disorder which is inherited autosomally in a recessive manner. The use of adenine in purine metabolism is disturbed and it accumulates in the body, where it is oxidised to poorly insoluble 2, 8‐dihydroxyadenine by xanthine oxidase. The dihydroxyadenine forms stones which can be mistaken for uric acid stones. Our patient had had frequent episodes of urolithiasis and the diagnosis was finally made after pyelolithotomy and stone analysis. The total APRT deficiency was detected in the haemolysate of erythrocytes. Partial eficiency of APRT in the patient's relatives showed heterozygosity of the enzyme defect. The only clinical manifestation of the defect is the formation of urinary stones. This can be prevented by diet and allopurinol.