Novel mutations in xanthine dehydrogenase/oxidase cause severe hypouricemia: Biochemical and molecular genetic analysis in two Czech families with xanthinuria type I

Abstract

In this article we present clinical, biochemical and molecular genetic evidence that a previously reported p.P214QfsX4 and novel p.R825X and p.R825X sequence variants in XDH/XO gene are causing xanthinuria type I in two Czech families.

Keywords

• Xanthinuria
• Xanthine dehydrogenase/oxidase
• Hypouricemia