xanthinuria type 1

(redirected from xanthine oxidase 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 ?
Xanthine oxidase deficiency is an uncommon cause of pediatric urinary stone formation and classical xanthinuria.