xanthinuria type II

info · Genetic

A xanthinuria characterized by deficiency of xanthine dehydrogenase and aldehyde oxidase that has_material_basis_in homozygous or compound heterozygous mutation in the MOCOS gene on chromosome 18q12.

Signs and symptoms

Xanthinuria
Increased urinary hypoxanthine level
Hyperxanthinemia
Hypouricemia
Increased circulating hypoxanthine concentration
Myalgia
Kidney stone
Renal insufficiency

Also known as: XAN2