| 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 | |
| Subsets |
DO_rare_slim |
| Synonyms |
kynureninase deficiency [EXACT] xanthurenic aciduria [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |