Term Name: hydroxykynureninuria
Synonyms: kynureninase deficiency, xanthurenic aciduria
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.
Ontology: Human Disease [DOID:0112257]   ( DOID:0112257 )

Relationships
is a type of: amino acid metabolic disorder autosomal recessive disease