Rare Disease Library

Erythrocyte galactose epimerase deficiency

Erythrocyte GALE deficiency · Erythrocyte GALE-D

Beta-ketothiolase deficiency

3-ketothiolase deficiency · 3-oxothiolase deficiency

Chondrodysplasia with joint dislocations, gPAPP type

gPAPP deficiency

Classic galactosemia

GALT deficiency · Galactose-1-phosphate uridyltransferase deficiency

Complement component 3 deficiency

C3 deficiency

Dopamine beta-hydroxylase deficiency

DBH deficiency

Galactokinase deficiency

GALK deficiency · GALK-D

Galactose epimerase deficiency

Epimerase deficiency galactosemia · GALE deficiency

Generalized galactose epimerase deficiency

Generalized GALE deficiency · Generalized GALE-D

Glycogen storage disease due to glucose-6-phosphatase deficiency

G6P deficiency · GSD due to G6P deficiency

Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib

G6P translocase deficiency · G6PT deficiency

Glycogen storage disease due to glycogen debranching enzyme deficiency

GSDIII · Glycogen storage disease type 3

GM1 gangliosidosis

Beta-galactosidase-1 deficiency · GLB1 deficiency

GTP cyclohydrolase I deficiency

GTPCH deficiency · Hyperphenylalaninemia due to GTP cyclohydrolase deficiency

Guanidinoacetate methyltransferase deficiency

GAMT deficiency

Hemolytic anemia due to glucophosphate isomerase deficiency

Glucose-6-phosphate isomerase deficiency · GPI deficiency

Hemolytic anemia due to red cell pyruvate kinase deficiency

Pyruvate kinase deficiency of erythrocytes

Krabbe disease

GALC deficiency · Galactocerebrosidase deficiency

Mucopolysaccharidosis type 4A

GALNS deficiency · Galactosamine-6-sulfatase deficiency

Pyruvate dehydrogenase E3 deficiency

DLD deficiency · Dihydrolipoamide dehydrogenase deficiency

Sanfilippo syndrome type D

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

Xanthinuria type I

XDH deficiency · XO deficiency