xanthinuria type 1
Friday 18 March 2005
Autosomal recessive metabolic disease.
low serum and urine uric acid
isolated deficiency of xanthine dehydrogenase
crystalline deposits in skeletal muscle
xanthinuria type 2
type I xanthinuria is caused by mutations in the gene XDH encoding xanthine dehydrogenase (MIM.607633).