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xanthinuria type 1

MIM.278300 2p23-p22

Friday 18 March 2005

Autosomal recessive metabolic disease.

Synopsis

- xanthine stones

  • hydronephrosis
  • pyelonephritis

- myopathy

Biology

- xanthinuria
- low serum and urine uric acid
- isolated deficiency of xanthine dehydrogenase
- crystalline deposits in skeletal muscle

See also

- xanthinuria type 2

Etiology

- type I xanthinuria is caused by mutations in the gene XDH encoding xanthine dehydrogenase (MIM.607633).