XDH, encoding for Xanthine dehydrogenase, is associated with human disease according to OMIM (Online Mendelian Inheritance in Man) with deleterious mutations in XDH known to cause Xanthinuria type I. However, the proband had no history of kidney stones or renal failure and the mutation found (rs138674014) has so far not been linked to Xanthinuria type 1. This evidence concerns the gene XDH and xanthinuria type I.