hydroxykynureninuria

Term ID

DOID:0112257

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. https://pubmed.ncbi.nlm.nih.gov/17334708/

References

• GARD:10039
• MESH:C536081
• MIM:236800
• ORDO:79155

Ontology

Human Disease   ( DOID:0112257 )