Identification of a new mutation in the human xanthine dehydrogenase responsible for xanthinuria type I

Abstract

Hereditary xanthinuria is a rare, autosomal and recessive disorder characterized by severe hypouricemia and increased xanthine excretion, caused by a deficiency of xanthine dehydrogenase/oxidase (XDH/XO, EC: 1.17.1.4/1.17.3.2) in type I, or by a deficiency of XDH/XO and aldehyde oxidase (AOX, EC: 1.2.3.1) in type II.

Keywords

• hypouricemia
• xanthine dehydrogenase gene
• xanthinuria