xanthinuria type 1
xanthinuria type 1A 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.
Caused by defects of XDH, which encodes xanthine dehydrogenase, a hydroxylase involved in the oxidative metabolism of purines.
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