Modern diagnostic approach to hereditary xanthinuria
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216224%3A14110%2F14%3A00077145" target="_blank" >RIV/00216224:14110/14:00077145 - isvavai.cz</a>
Result on the web
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DOI - Digital Object Identifier
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Alternative languages
Result language
angličtina
Original language name
Modern diagnostic approach to hereditary xanthinuria
Original language description
Hereditary xanthinuria (HX) is a rare autosomal recessive disorder of purine metabolism caused by a deficiency of xanthine dehy-drogenase (XDH), which catalyses the conversion of hypoxanthine and xanthine to uric acid. Missing XHD activity leads to undetectable levels of uric acid excessively replaced by xanthine in serum/urine. The typical finding of radiolucent renal stones is present in 40% of cases. Two types of HX have been described - simple XDH deficiency (type I) and dual XDH and aldehyde oxidase (AO) deficiency (type II). Although both types of HX have characteristic biochemical profile, the allopurinol loading test has been traditionally used to differentiate between them. Moreover, final confirmation of HX has been based on the biopsy finding of the absent XDH activity in the small intestine or liver.
Czech name
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Czech description
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Classification
Type
O - Miscellaneous
CEP classification
FG - Paediatrics
OECD FORD branch
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Result continuities
Project
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Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2014
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů