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dc.contributor.authorLaxdal, T
dc.contributor.authorJonasson, T A
dc.date.accessioned2010-03-03T11:24:15Z
dc.date.available2010-03-03T11:24:15Z
dc.date.issued1988-12
dc.date.submitted2010-03-03
dc.identifier.citationActa Med Scand. 1988, 224(6):621-6en
dc.identifier.issn0001-6101
dc.identifier.pmid3207073
dc.identifier.doi10.1111/j.0954-6820.1988.tb19635.x
dc.identifier.urihttp://hdl.handle.net/2336/93501
dc.descriptionTo access publisher full text version of this article. Please click on the hyperlink in Additional Links fielden
dc.description.abstractTwo 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.
dc.language.isoenen
dc.publisherDistributed by Almqvist and Wiksellen
dc.relation.urlhttp://www3.interscience.wiley.com/journal/122338239/abstracten
dc.subject.meshAdenine Phosphoribosyltransferaseen
dc.subject.meshAdulten
dc.subject.meshChilden
dc.subject.meshChild, Preschoolen
dc.subject.meshErythrocytesen
dc.subject.meshFemaleen
dc.subject.meshHumansen
dc.subject.meshIcelanden
dc.subject.meshInfanten
dc.subject.meshMaleen
dc.subject.meshPentosyltransferasesen
dc.subject.meshSpectrophotometry, Infrareden
dc.subject.meshSpectrophotometry, Ultravioleten
dc.titleAdenine phosphoribosyltransferase deficiency in Icelanden
dc.typeArticleen
dc.contributor.departmentDepartment of Paediatrics, St. Joseph's Hospital, Reykjavík, Iceland.en
dc.identifier.journalActa medica Scandinavicaen
html.description.abstractTwo 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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