Spectrum of 2,8-dihydroxyadenine urolithiasis in complete APRT deficiency.

H. A. Simmonds, T. M. Barratt, D. R. Webster, A. Sahota, K. J. Van Acker, J. S. Cameron, M. Dillon

Research output: Contribution to journalArticlepeer-review

8 Scopus citations

Abstract

APRT deficiency may be totally benign or life threatening. The importance of early recognition/diagnosis is thus stressed. Urolithiasis (2,8-DHA stones: the precipitating factor in all cases) is treatable. With early recognition and treatment allopurinol without alkali and a diet low in purine homozygotes have remained clinically and biochemically normal to date. 'Uric acid' stones in children must always be suspect and subjected to sophisticated analysis. Diagnosis from red cell APRT activity may also have its pitfalls.

Original languageEnglish (US)
Pages (from-to)337-341
Number of pages5
JournalAdvances in experimental medicine and biology
Volume122 A
DOIs
StatePublished - 1980
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • Biochemistry, Genetics and Molecular Biology(all)

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