Rare Disease Library

Adenosine monophosphate deaminase deficiency

AMP deaminase deficiency · Myoadenylate deaminase deficiency

Adenylosuccinate lyase deficiency

ADSL deficiency · Adenylosuccinase deficiency

Aminoacylase 1 deficiency

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

Aminoacylase deficiency

Argininemia

Arginase 1 deficiency · Arginase deficiency

Canavan disease

ACY2 deficiency · Aminoacylase 2 deficiency

Carnosinase deficiency

Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome

MYSM1 deficiency

D-glyceric aciduria

D-glycerate kinase deficiency · D-glyceric acidemia

Deficiency of adenosine deaminase 2

Adenosine deaminase 2 deficiency · ADA2 deficiency

Essential fructosuria

Fructokinase deficiency · Ketohexokinase deficiency

Fructose-1,6-bisphosphatase deficiency

FBPase deficiency · Fructose-1,6-diphosphatase deficiency

Galactokinase deficiency

GALK deficiency · GALK-D

Gamma-aminobutyric acid transaminase deficiency

GABA transaminase deficiency

Glycogen storage disease due to muscle glycogen phosphorylase deficiency

GSD due to muscle glycogen phosphorylase deficiency · GSD type 5

Hemolytic anemia due to adenylate kinase deficiency

Hydroxykynureninuria

Kynureninase deficiency · Xanthurenic aciduria

Hyperimmunoglobulinemia D with periodic fever

HIDS · Hyper-IgD syndrome

Mevalonate kinase deficiency

MKD

Mevalonic aciduria

Complete mevalonate kinase deficiency · MVA

Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency

Crotonase deficiency · ECHS1D

MYO5B-related progressive familial intrahepatic cholestasis

MYO5B deficiency

Purine nucleoside phosphorylase deficiency

PNP deficiency · PNPase deficiency

Severe combined immunodeficiency due to adenosine deaminase deficiency

ADA deficiency · SCID due to adenosine deaminase deficiency