Modern diagnostic approach to hereditary xanthinuria
| Authors | |
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| Year of publication | 2014 |
| Type | Conference abstract |
| MU Faculty or unit | |
| Citation | |
| 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. |