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Adenine phosphoribosyltransferase deficiency in Iceland

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Authors
Laxdal, T
Jonasson, T A
Issue Date
1988-12

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Citation
Acta Med Scand. 1988, 224(6):621-6
Abstract
Two children and two adults of four unrelated families were on regular light microscopic examination found to exhibit identical, spherical urine crystals. Their characteristic appearance led to the diagnosis of 2,8-dihydroxyadenine crystalluria by spectrophotometric or gas-chromatographic/mass-spectrometric analysis. Total deficiency of adenine phosphoribosyltransferase was confirmed by direct measurements of the enzyme activity in lysed red blood cells. Close family members were also examined for the enzyme defect, revealing no additional homozygotes, but 13 heterozygotes among 14 relatives. We suggest that round, brownish urine crystals, even without radiolucent kidney stones, should alert the physician to search for the existence of 2,8-dihydroxyadenine. Proper treatment could then be instituted without delay, preventing eventual kidney damage.
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http://www3.interscience.wiley.com/journal/122338239/abstract
ae974a485f413a2113503eed53cd6c53
10.1111/j.0954-6820.1988.tb19635.x
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English Journal Articles (Peer Reviewed)

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