Rare Disease Library

Krabbe disease

GALC deficiency · Galactocerebrosidase deficiency

Acatalasemia

Catalase deficiency

ALG6-CDG

CDG syndrome type Ic · CDG-Ic

ALG8-CDG

CDG syndrome type Ih · CDG-Ih

Alkaline ceramidase 3 deficiency

Leukodystrophy due to alkaline ceramidase 3 deficiency · ACER3-related early childhood-onset progressive leukodystrophy

Alpha-N-acetylgalactosaminidase deficiency

NAGA deficiency · Schindler disease

Alpha-N-acetylgalactosaminidase deficiency type 1

NAGA deficiency type 1 · Schindler disease type 1

Alpha-N-acetylgalactosaminidase deficiency type 2

Adult-onset Alpha-N-acetylgalactosaminidase deficiency · Kanzaki disease

Alpha-N-acetylgalactosaminidase deficiency type 3

NAGA deficiency type 3 · Schindler disease type 3

B4GALT1-CDG

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

Biotinidase deficiency

Juvenile-onset multiple carboxylase deficiency · Late-onset multiple carboxylase deficiency

Classic galactosemia

GALT deficiency · Galactose-1-phosphate uridyltransferase deficiency

D-glyceric aciduria

D-glycerate kinase deficiency · D-glyceric acidemia

Erythrocyte galactose epimerase deficiency

Erythrocyte GALE deficiency · Erythrocyte GALE-D

Fabry disease

Alpha-galactosidase A deficiency · Anderson-Fabry disease

Farber disease

Acid ceramidase deficiency · Farber lipogranulomatosis

Fructose-1,6-bisphosphatase deficiency

FBPase deficiency · Fructose-1,6-diphosphatase deficiency

Galactokinase deficiency

GALK deficiency · GALK-D

Galactose epimerase deficiency

Epimerase deficiency galactosemia · GALE deficiency

Galactosialidosis

Goldberg syndrome · Neuraminidase deficiency with beta-galactosidase deficiency

Gamma-aminobutyric acid transaminase deficiency

GABA transaminase deficiency

Gaucher disease

Acid beta-glucosidase deficiency · Glucocerebrosidase deficiency

Generalized galactose epimerase deficiency

Generalized GALE deficiency · Generalized GALE-D

GM1 gangliosidosis

Beta-galactosidase-1 deficiency · GLB1 deficiency

Guanidinoacetate methyltransferase deficiency

GAMT deficiency

Histidinemia

HAL deficiency · HIS deficiency

Hyaluronidase deficiency

MPS9 · MPSIX

MOGS-CDG

CDG syndrome type IIb · CDG-IIb

Mucopolysaccharidosis type 4A

GALNS deficiency · Galactosamine-6-sulfatase deficiency

Mucopolysaccharidosis type 4B

Beta-D-galactosidase deficiency · MPS4B

Mucopolysaccharidosis type 6

ARSB deficiency · ASB deficiency

Prolidase deficiency

Hyperimidodipeptiduria

Purine nucleoside phosphorylase deficiency

PNP deficiency · PNPase deficiency

Sanfilippo syndrome type A

Mucopolysaccharidosis type IIIA · Heparan sulfamidase deficiency

Trehalase deficiency

Isolated trehalose intolerance

Vitamin B12-responsive methylmalonic acidemia

Adenosylcobalamin deficiency · Vitamin B12-responsive methylmalonic aciduria