Adenine phosphoribosyltransferase deficiency in Iceland

To access publisher full text version of this article. Please click on the hyperlink in Additional Links field 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 le...

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Bibliographic Details
Published in:Acta Medica Scandinavica
Main Authors: Laxdal, T, Jonasson, T A
Other Authors: Department of Paediatrics, St. Joseph's Hospital, Reykjavík, Iceland.
Format: Article in Journal/Newspaper
Language:English
Published: Distributed by Almqvist and Wiksell 2010
Subjects:
Adenine Phosphoribosyltransferase
Adult
Child
Preschool
Erythrocytes
Female
Humans
Iceland
Infant
Male
Pentosyltransferases
Spectrophotometry
Infrared
Ultraviolet
Online Access:http://hdl.handle.net/2336/93501
https://doi.org/10.1111/j.0954-6820.1988.tb19635.x
Description
Summary:To access publisher full text version of this article. Please click on the hyperlink in Additional Links field 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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