OnlineIMD
Kynureninase deficiency
Synonym(s)
Xanthurenic aciduria
,
hydroxykynureninuria
,
vertebral, cardiac, renal, and limb defects syndrome type 2
Type
Disease
External link(s)
Orphanet
IEMbase
Gene
KYNU
/ Kynureninase
2q22.2
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
Kynureninase
Pathway
Lysine, hydroxylysine, and tryptophan metabolism
Disease group(s)
1.8 Disorders of lysine, hydroxylysine, and tryptophan metabolism