Rare Disease Library

Galactose epimerase deficiency

Epimerase deficiency galactosemia · GALE deficiency

B4GALT1-CDG

Beta-1,4-galactosyltransferase deficiency · CDG syndrome type IId

Classic galactosemia

GALT deficiency · Galactose-1-phosphate uridyltransferase deficiency

Erythrocyte galactose epimerase deficiency

Erythrocyte GALE deficiency · Erythrocyte GALE-D

Fabry disease

Alpha-galactosidase A deficiency · Anderson-Fabry disease

Galactokinase deficiency

GALK deficiency · GALK-D

Galactosialidosis

Goldberg syndrome · Neuraminidase deficiency with beta-galactosidase deficiency

Generalized galactose epimerase deficiency

Generalized GALE deficiency · Generalized GALE-D

GM1 gangliosidosis

Beta-galactosidase-1 deficiency · GLB1 deficiency

Krabbe disease

GALC deficiency · Galactocerebrosidase deficiency

Mucopolysaccharidosis type 4A

GALNS deficiency · Galactosamine-6-sulfatase deficiency

Mucopolysaccharidosis type 4B

Beta-D-galactosidase deficiency · MPS4B

Mucopolysaccharidosis type 6

ARSB deficiency · ASB deficiency

NAD(P)HX epimerase deficiency

Apolipoprotein A-I binding protein deficiency