Ontology highlight
ABSTRACT:
SUBMITTER: Zikanova M
PROVIDER: S-EPMC6232955 | biostudies-literature | 2018 Jul
REPOSITORIES: biostudies-literature
Zikánová Marie M Wahezi Dawn D Hay Arielle A Stiburková Blanka B Pitts Charles C Mušálková Dita D Škopová Václava V Barešová Veronika V Soucková Olga O Hodanová Katerina K Živná Martina M Stránecký Viktor V Hartmannová Hana H Hnízda Ales A Bleyer Anthony J AJ Kmoch Stanislav S
Rheumatology (Oxford, England) 20180701 7
<h4>Objectives</h4>Phosphoribosylpyrophosphate synthetase (PRPS1) superactivity is an X-linked disorder characterized by urate overproduction Online Mendelian Inheritance in Man (OMIM) gene reference 300661. This condition is thought to rarely affect women, and when it does, the clinical presentation is mild. We describe a 16-year-old African American female who developed progressive tophi, nephrolithiasis and acute kidney failure due to urate overproduction. Family history included a mother wit ...[more]