OnlineIMD
Essential fructosuria
Synonym(s)
Hepatic fructokinase deficiency
Type
Disease
External link(s)
Orphanet
IEMbase
VMH
Gene
KHK
/ ketohexokinase
2p23.3
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
Ketohexokinase
Pathway
Galactose and Fructose metabolism
Disease group(s)
3.1 Disorders of galactose and fructose metabolism