Hyperadeninuria in a Patient with Congenital Deficiency of Adenine Phosphoribosyltransferase
作者:
Tadao NORO,
Akira KAMIKAWA,
Tomoji SAMORI,
期刊:
Congenital Anomalies
(WILEY Available online 1985)
卷期:
Volume 25,
issue 1
页码: 57-64
ISSN:0914-3505
年代: 1985
DOI:10.1111/j.1741-4520.1985.tb00634.x
出版商: Blackwell Publishing Ltd
关键词: A‐PRTase deficiency;2,8‐dihydroxyadeninuria;hyperadeninuria;adenin‐body urine disease
数据来源: WILEY
摘要:
AbstractThe 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 la
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