Rare Disease Library

Gamma-aminobutyric acid transaminase deficiency

GABA transaminase deficiency

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

ALG6-CDG

CDG syndrome type Ic · CDG-Ic

ALG8-CDG

CDG syndrome type Ih · CDG-Ih

Aminoacylase 1 deficiency

ACY1D · N-acyl-L-amino acid amidohydrolase deficiency

Aminoacylase deficiency

Argininemia

Arginase 1 deficiency · Arginase deficiency

Aromatase deficiency

Congenital estrogen deficiency

Autosomal recessive spastic paraplegia type 26

GM2 synthase deficiency · SPG26

Beta-ketothiolase deficiency

3-ketothiolase deficiency · 3-oxothiolase deficiency

Canavan disease

ACY2 deficiency · Aminoacylase 2 deficiency

Carnitine-acylcarnitine translocase deficiency

CACT deficiency

Carnosinase deficiency

Chondrodysplasia with joint dislocations, gPAPP type

gPAPP deficiency

Classic galactosemia

GALT deficiency · Galactose-1-phosphate uridyltransferase deficiency

Corticosteroid-binding globulin deficiency

Transcortin deficiency

Cystathioninuria

Cystathionase deficiency · Gamma-cystathionase deficiency

D-glyceric aciduria

D-glycerate kinase deficiency · D-glyceric acidemia

Deficiency of adenosine deaminase 2

Adenosine deaminase 2 deficiency · ADA2 deficiency

DK1-CDG

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

Essential fructosuria

Fructokinase deficiency · Ketohexokinase deficiency

Formiminoglutamic aciduria

FTCD deficiency · Formiminotransferase cyclodeaminase deficiency

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-glutamyl transpeptidase deficiency

Glutathionuria · Gamma-glutamyl transferase deficiency

Glycerol kinase deficiency

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

GM3 synthase deficiency

ST3GAL5-CDG

GTP cyclohydrolase I deficiency

GTPCH deficiency · Hyperphenylalaninemia due to GTP cyclohydrolase deficiency

Guanidinoacetate methyltransferase deficiency

GAMT deficiency

Gyrate atrophy of choroid and retina

HOGA · Hyperornithinemia

Hemolytic anemia due to glucophosphate isomerase deficiency

Glucose-6-phosphate isomerase deficiency · GPI deficiency

Histidinemia

HAL deficiency · HIS deficiency

Homocarnosinosis

Homocarnosinase deficiency

Hydroxykynureninuria

Kynureninase deficiency · Xanthurenic aciduria

Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome

HHH syndrome · ORNT1 deficiency

Infantile dystonia-parkinsonism

Dopamine transporter deficiency syndrome · IPD

Intellectual disability-facial dysmorphism-joint hypermobility-hearing loss syndrome

Beck-Fahrner syndrome · TET3-related Beck-Fahrner syndrome

Krabbe disease

GALC deficiency · Galactocerebrosidase deficiency

Lipoyl transferase 1 deficiency