xanthinuria type 1
MIM.278300 2p23-p22
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
Etiology
type I xanthinuria is caused by mutations in the gene XDH encoding xanthine dehydrogenase (MIM.607633).
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