Rare Disease Library

Galactose epimerase deficiency

Epimerase deficiency galactosemia · GALE deficiency

Acatalasemia

Catalase 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

Fumaric aciduria

Fumarase deficiency

Galactokinase deficiency

GALK deficiency · GALK-D

Galactosemia

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

Guanidinoacetate methyltransferase deficiency

GAMT deficiency

Krabbe disease

GALC deficiency · Galactocerebrosidase deficiency

Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency

MCEE deficiency · Methylmalonic acidemia due to methylmalonyl-CoA racemase deficiency

Mucopolysaccharidosis type 4A

GALNS deficiency · Galactosamine-6-sulfatase deficiency

Mucopolysaccharidosis type 4B

Beta-D-galactosidase deficiency · MPS4B

NAD(P)HX epimerase deficiency

Apolipoprotein A-I binding protein deficiency

Ribose-5-P isomerase deficiency