Rare Disease Library

Tyrosinemia type 1

FAH deficiency · Fumarylacetoacetase deficiency

46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency

17-beta-hydroxysteroid dehydrogenase 3 deficiency · 17-ketoreductase deficiency

Acatalasemia

Catalase deficiency

Aminoacylase 1 deficiency

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

Aminoacylase deficiency

Argininemia

Arginase 1 deficiency · Arginase deficiency

Aromatase deficiency

Congenital estrogen deficiency

Canavan disease

ACY2 deficiency · Aminoacylase 2 deficiency

Essential fructosuria

Fructokinase deficiency · Ketohexokinase deficiency

Fatty acyl-CoA reductase 1 deficiency

PFCRD · FAR1 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

Glycogen storage disease due to muscle glycogen phosphorylase deficiency

GSD due to muscle glycogen phosphorylase deficiency · GSD type 5

Histidinemia

HAL deficiency · HIS deficiency

Metachromatic leukodystrophy

Arylsulfatase A deficiency · MLD

Metachromatic leukodystrophy, adult form

Arylsulfatase A deficiency, adult form · MLD, adult form

Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency

Crotonase deficiency · ECHS1D

Mucopolysaccharidosis type 6

ARSB deficiency · ASB deficiency

Progressive familial intrahepatic cholestasis type 1

Byler disease · FIC1 deficiency

Prolidase deficiency

Hyperimidodipeptiduria

Pseudo-Zellweger syndrome

Thiolase deficiency

Purine nucleoside phosphorylase deficiency

PNP deficiency · PNPase deficiency

Pyruvate dehydrogenase E3-binding protein deficiency

2-oxoglutarate complex deficiency · Branched chain alpha-ketoacid dehydrogenase complex deficiency

Transketolase deficiency

TKT deficiency · Short stature-developmental delay-congenital heart defect syndrome

Trehalase deficiency

Isolated trehalose intolerance