hydroxykynureninuria (DOID:0112257)
Alliance: disease page
Synonyms: kynureninase deficiency; xanthurenic aciduria
Alt IDs: OMIM:236800, MESH:C536081, ORDO:79155
Definition: An amino acid metabolic disorder characterized by impaired tryptophan metabolism resulting in high urinary excretion of kynurenine, xanthurenic acid and 3-hydroxykynurenine that has_material_basis_in homozygous or compound heterozygous mutation in the KYNU gene on chromosome 2q22.2.