Term Name: | hydroxykynureninuria |
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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 ) |