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Metadata
ID	DOID:0112257
Name	hydroxykynureninuria
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. https://pubmed.ncbi.nlm.nih.gov/17334708/
Xrefs	GARD:10039 MESH:C536081 OMIM:236800 ORDO:79155
Subsets	DO_rare_slim
Synonyms	kynureninase deficiency [EXACT] xanthurenic aciduria [EXACT]
Parent Relationships	is_a amino acid metabolic disorder is_a autosomal recessive disease