OnlineIMD
Galactose epimerase deficiency
Synonym(s)
Galactosemia type 3
Type
Disease
External link(s)
Orphanet
IEMbase
VMH
Gene
GALE
/ UDP-galactose-4-epimerase
1p36.11
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
UDP-galactose-4-epimerase
Pathway
Galactose and Fructose metabolism
Disease group(s)
3.1 Disorders of galactose and fructose metabolism
Child entries
Galactose epimerase deficiency, generalized
Galactose epimerase deficiency, erythrocyte-restricted