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Hyperadeninuria in a Patient with Congenital Deficiency of Adenine Phosphoribosyltransferase
Author(s) -
NORO Tadao,
KAMIKAWA Akira,
SAMORI Tomoji
Publication year - 1985
Publication title -
congenital anomalies
Language(s) - English
Resource type - Journals
eISSN - 1741-4520
pISSN - 0914-3505
DOI - 10.1111/j.1741-4520.1985.tb00634.x
Subject(s) - crystalluria , urine , medicine , adenine phosphoribosyltransferase , chemistry , biochemistry , enzyme , purine , calcium oxalate
The authors have previously reported on the possibility of using the detection of crystalluria of 2, 8‐dihydroxyadenine as a screening test for the early discovery of congenital adenine phosphoribosytransferase deficiency. Since the amount of adenine in urine was determined by high performance liquid chromatography and hyperadeninuria in a girl patient with this disease was definitely recognized, it is concluded that the detection of crystalluria of 2,8‐dihydroxyadenine as a primary screening test and the demonstration of hyperadeninuria as a secondary screening are helpful in an early detection of this disease. The authors would like to propose this disease be designated a “Adenine‐body Urine Disease,” since adenine bodies such as adenine and 2,8‐dihydroxyadenine are excreted into the urine in large volumes.