Adenine Phosphoribosyltransferase Deficiency in Iceland
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/...
Published in: | Acta Medica Scandinavica |
---|---|
Main Authors: | , |
Format: | Article in Journal/Newspaper |
Language: | English |
Published: |
Wiley
1988
|
Subjects: | |
Online Access: | http://dx.doi.org/10.1111/j.0954-6820.1988.tb19635.x https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.0954-6820.1988.tb19635.x https://onlinelibrary.wiley.com/doi/pdf/10.1111/j.0954-6820.1988.tb19635.x |
id |
crwiley:10.1111/j.0954-6820.1988.tb19635.x |
---|---|
record_format |
openpolar |
spelling |
crwiley:10.1111/j.0954-6820.1988.tb19635.x 2024-06-02T08:09:12+00:00 Adenine Phosphoribosyltransferase Deficiency in Iceland LAXDAL, THRÖSTUR JÓNASSON, TÓMAS Á. 1988 http://dx.doi.org/10.1111/j.0954-6820.1988.tb19635.x https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.0954-6820.1988.tb19635.x https://onlinelibrary.wiley.com/doi/pdf/10.1111/j.0954-6820.1988.tb19635.x en eng Wiley http://onlinelibrary.wiley.com/termsAndConditions#vor Acta Medica Scandinavica volume 224, issue 6, page 621-626 ISSN 0001-6101 journal-article 1988 crwiley https://doi.org/10.1111/j.0954-6820.1988.tb19635.x 2024-05-03T10:51:02Z 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 heterzygotes 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. Article in Journal/Newspaper Iceland Wiley Online Library Acta Medica Scandinavica 224 6 621 626 |
institution |
Open Polar |
collection |
Wiley Online Library |
op_collection_id |
crwiley |
language |
English |
description |
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 heterzygotes 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. |
format |
Article in Journal/Newspaper |
author |
LAXDAL, THRÖSTUR JÓNASSON, TÓMAS Á. |
spellingShingle |
LAXDAL, THRÖSTUR JÓNASSON, TÓMAS Á. Adenine Phosphoribosyltransferase Deficiency in Iceland |
author_facet |
LAXDAL, THRÖSTUR JÓNASSON, TÓMAS Á. |
author_sort |
LAXDAL, THRÖSTUR |
title |
Adenine Phosphoribosyltransferase Deficiency in Iceland |
title_short |
Adenine Phosphoribosyltransferase Deficiency in Iceland |
title_full |
Adenine Phosphoribosyltransferase Deficiency in Iceland |
title_fullStr |
Adenine Phosphoribosyltransferase Deficiency in Iceland |
title_full_unstemmed |
Adenine Phosphoribosyltransferase Deficiency in Iceland |
title_sort |
adenine phosphoribosyltransferase deficiency in iceland |
publisher |
Wiley |
publishDate |
1988 |
url |
http://dx.doi.org/10.1111/j.0954-6820.1988.tb19635.x https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.0954-6820.1988.tb19635.x https://onlinelibrary.wiley.com/doi/pdf/10.1111/j.0954-6820.1988.tb19635.x |
genre |
Iceland |
genre_facet |
Iceland |
op_source |
Acta Medica Scandinavica volume 224, issue 6, page 621-626 ISSN 0001-6101 |
op_rights |
http://onlinelibrary.wiley.com/termsAndConditions#vor |
op_doi |
https://doi.org/10.1111/j.0954-6820.1988.tb19635.x |
container_title |
Acta Medica Scandinavica |
container_volume |
224 |
container_issue |
6 |
container_start_page |
621 |
op_container_end_page |
626 |
_version_ |
1800754868747501568 |