Rare Disease Library

Galactokinase deficiency

GALK deficiency · GALK-D

5-oxoprolinase deficiency

Oxoprolinuria due to oxoprolinase deficiency

Acatalasemia

Catalase deficiency

Adenosine monophosphate deaminase deficiency

AMP deaminase deficiency · Myoadenylate deaminase deficiency

Alpha-N-acetylgalactosaminidase deficiency

NAGA deficiency · Schindler disease

Argininemia

Arginase 1 deficiency · Arginase deficiency

B4GALT1-CDG

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

Carnosinase deficiency

Classic galactosemia

GALT deficiency · Galactose-1-phosphate uridyltransferase deficiency

D-glyceric aciduria

D-glycerate kinase deficiency · D-glyceric acidemia

DK1-CDG

Dolichol kinase deficiency · Hypotonia and ichthyosis due to dolichol phosphate deficiency

Erythrocyte galactose epimerase deficiency

Erythrocyte GALE deficiency · Erythrocyte GALE-D

Essential fructosuria

Fructokinase deficiency · Ketohexokinase deficiency

Fabry disease

Alpha-galactosidase A deficiency · Anderson-Fabry disease

Fructose-1,6-bisphosphatase deficiency

FBPase deficiency · Fructose-1,6-diphosphatase deficiency

Galactose epimerase deficiency

Epimerase deficiency galactosemia · GALE deficiency

Galactosemia

Galactosialidosis

Goldberg syndrome · Neuraminidase deficiency with beta-galactosidase deficiency

Gamma-aminobutyric acid transaminase deficiency

GABA transaminase deficiency

Generalized galactose epimerase deficiency

Generalized GALE deficiency · Generalized GALE-D

Glycerol kinase deficiency

Glycogen storage disease due to glucose-6-phosphatase deficiency

G6P deficiency · GSD due to G6P deficiency

Glycogen storage disease due to glycogen debranching enzyme deficiency

GSDIII · Glycogen storage disease type 3

GM1 gangliosidosis

Beta-galactosidase-1 deficiency · GLB1 deficiency

Guanidinoacetate methyltransferase deficiency

GAMT deficiency

Hemolytic anemia due to glucophosphate isomerase deficiency

Glucose-6-phosphate isomerase deficiency · GPI deficiency

Hydroxykynureninuria

Kynureninase deficiency · Xanthurenic aciduria

Krabbe disease

GALC deficiency · Galactocerebrosidase deficiency

Mevalonate kinase deficiency

MKD

Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency

Crotonase deficiency · ECHS1D

Mucopolysaccharidosis type 4A

GALNS deficiency · Galactosamine-6-sulfatase deficiency

Mucopolysaccharidosis type 4B

Beta-D-galactosidase deficiency · MPS4B

Purine nucleoside phosphorylase deficiency

PNP deficiency · PNPase deficiency

Rare deficiency anemia

Sanfilippo syndrome type D

GNS deficiency · Glucosamine N-acetyl-6-sulfatase deficiency

Trehalase deficiency

Isolated trehalose intolerance