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Summary Literature (0)
DOID:0112257 - hydroxykynureninuria

Disease Ontology 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.

Synonyms: kynureninase deficiency, xanthurenic aciduria

Xenbase Genes : kynu


MIM:
MIM:236800 - HYDROXYKYNURENINURIA

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): amino acid metabolic disorder (is_a), autosomal recessive disease (is_a)