Rare Disease Library

D-glyceric aciduria

D-glycerate kinase deficiency · D-glyceric acidemia

5-oxoprolinase deficiency

Oxoprolinuria due to oxoprolinase deficiency

Acatalasemia

Catalase deficiency

Adenosine monophosphate deaminase deficiency

AMP deaminase deficiency · Myoadenylate deaminase deficiency

Adenylosuccinate lyase deficiency

ADSL deficiency · Adenylosuccinase deficiency

Alacrimia-choreoathetosis-liver dysfunction syndrome

NGLY1 deficiency · NGLY1-CDDG

Argininemia

Arginase 1 deficiency · Arginase deficiency

Aromatase deficiency

Congenital estrogen deficiency

Autosomal recessive spastic paraplegia type 26

GM2 synthase deficiency · SPG26

Carnosinase deficiency

Chondrodysplasia with joint dislocations, gPAPP type

gPAPP deficiency

Classic galactosemia

GALT deficiency · Galactose-1-phosphate uridyltransferase deficiency

Cystathioninuria

Cystathionase deficiency · Gamma-cystathionase deficiency

DK1-CDG

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

Essential fructosuria

Fructokinase deficiency · Ketohexokinase deficiency

Farber disease

Acid ceramidase deficiency · Farber lipogranulomatosis

Fructose-1,6-bisphosphatase deficiency

FBPase deficiency · Fructose-1,6-diphosphatase deficiency

Fumaric aciduria

Fumarase deficiency

Galactokinase deficiency

GALK deficiency · GALK-D

Galactose epimerase deficiency

Epimerase deficiency galactosemia · GALE deficiency

Gamma-aminobutyric acid transaminase deficiency

GABA transaminase deficiency

Gaucher disease

Acid beta-glucosidase deficiency · Glucocerebrosidase deficiency

Glycerol kinase deficiency

Glycerol kinase deficiency, adult form

Glycerol kinase deficiency, juvenile form

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

Glycogen storage disease due to lactate dehydrogenase deficiency

GSD due to lactate dehydrogenase deficiency · Glycogenosis due to lactate dehydrogenase deficiency

Glycogen storage disease due to liver phosphorylase kinase deficiency

GSD due to liver phosphorylase kinase deficiency · GSD type 9A

Glycogen storage disease due to muscle phosphorylase kinase deficiency

GSD due to muscle phosphorylase kinase deficiency · GSD type 9D

Glycogen storage disease due to phosphoglycerate kinase 1 deficiency

GSD due to phosphoglycerate kinase 1 deficiency · Glycogenosis due to phosphoglycerate kinase 1 deficiency

Glycogen storage disease due to phosphoglycerate mutase deficiency

Glycogen storage disease due to phosphoglycerate mutase 2 deficiency · GSD type 10

Glycogen storage disease due to phosphorylase kinase deficiency

GSD due to phosphorylase kinase deficiency · GSD type 9

GM1 gangliosidosis

Beta-galactosidase-1 deficiency · GLB1 deficiency

GM3 synthase deficiency

ST3GAL5-CDG

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

Histidinemia

HAL deficiency · HIS deficiency

Homocarnosinosis

Homocarnosinase deficiency

Hydroxykynureninuria

Kynureninase deficiency · Xanthurenic aciduria

Hyperimmunoglobulinemia D with periodic fever

HIDS · Hyper-IgD syndrome

Hypermethioninemia due to glycine N-methyltransferase deficiency

Glycine N-methyltransferase deficiency · Hypermethioninemia due to GNMT deficiency

Isolated glycerol kinase deficiency

Hyperglycerolemia

Krabbe disease

GALC deficiency · Galactocerebrosidase deficiency

Malonic aciduria

Malonyl-CoA decarboxylase deficiency · Malonic acidemia