Document Detail

2,8-Dihydroxyadenine urolithiasis due to partial deficit in adenine phosphoribosyltransferase: a case report.
MedLine Citation:
PMID:  1609669     Owner:  NLM     Status:  MEDLINE    
Inherited metabolic diseases resulting in urolithiasis secondary to urinary excretion of insoluble substances are rare but often present as urinary obstruction of renal insufficiency. We herein report a case of partial adenine phosphoribosyltransferase deficiency associated with 2,8-dihydroxyadenine urolithiasis. In family members the propositus and his younger brother are homozygotes for defective APRT genes, and who exhibits the type II phenotype designated APRT*J (Japanese type).
Y Katsuoka; H Miyakita; M Shiramizu; H Iwagaki; T Ikeda
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Hinyokika kiyo. Acta urologica Japonica     Volume:  38     ISSN:  0018-1994     ISO Abbreviation:  Hinyokika Kiyo     Publication Date:  1992 May 
Date Detail:
Created Date:  1992-07-17     Completed Date:  1992-07-17     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  0421145     Medline TA:  Hinyokika Kiyo     Country:  JAPAN    
Other Details:
Languages:  eng     Pagination:  573-7     Citation Subset:  IM    
Department of Urology, Tokai University School of Medicine, Isehara City.
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MeSH Terms
Adenine / analogs & derivatives*,  analysis
Adenine Phosphoribosyltransferase / deficiency*,  genetics
Family Health
Urinary Calculi / chemistry,  enzymology,  etiology*
Reg. No./Substance:
30377-37-8/2,8-dihydroxyadenine; 73-24-5/Adenine; EC Phosphoribosyltransferase

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