xanthinuria type 1

(redirected from XDH deficiency)

xanthinuria type 1

A hereditary condition (OMIM:278300) characterised by excretion of a large excess of xanthine in the urine and a tendency to form xanthine stones; uric acid is markedly reduced in serum and urine.

Molecular pathology
Caused by defects of XDH, which encodes xanthine dehydrogenase, a hydroxylase involved in the oxidative metabolism of purines.
References in periodicals archive ?
A proton nuclear magnetic resonance (1H-NMR) spectrometric method can be used to measure many compounds of purine and pyrimidine metabolism (13), but it has a major disadvantage in that it fails to detect uric acid and 2,8-dihydroxyadenine, which are very useful markers for the diagnosis of APRT deficiency, XDH deficiency, molybdenum cofactor deficiency, PRPPS super-activity, and HGPRT deficiency.
Urine samples of three patients from two families with isolated XDH deficiency could be measured both before and during allopurinol therapy.
After allopurinol loading, the NMR spectra of the urine could discriminate between isolated XDH deficiency and combined XDH/AO deficiency through the presence of oxypurinol.