Conditions / Genetic
xanthinuria type I
info · Genetic
A xanthinuria characterized by isolated deficiency of xanthine dehydrogenase that has_material_basis_in homozygous or compound heterozygous mutation in the XDH gene on chromosome 2p23.
Signs and symptoms
- Impaired renal uric acid clearance
- Hyperxanthinemia
- Hypouricemia
- Reduced circulating xanthine oxidase activity
- Pyelonephritis
- Xanthinuria
- Xanthine nephrolithiasis
- Myopathy
- Reduced xanthine dehydrogenase level
- Hydronephrosis
Also known as: XAN1