Rare Disease Library

Chronic diarrhea due to glucoamylase deficiency

Maltase-glucoamylase deficiency

3-methylcrotonyl-CoA carboxylase deficiency

3-methylcrotonylglycinuria · MCC deficiency

Acatalasemia

Catalase deficiency

ALG6-CDG

CDG syndrome type Ic · CDG-Ic

ALG8-CDG

CDG syndrome type Ih · CDG-Ih

Allan-Herndon-Dudley syndrome

AHDS · MCT8 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

Autosomal recessive extra-oral halitosis

Methanethiol oxidase deficiency · MTO-deficiency

Autosomal recessive spastic paraplegia type 26

GM2 synthase deficiency · SPG26

Canavan disease

ACY2 deficiency · Aminoacylase 2 deficiency

Classic galactosemia

GALT deficiency · Galactose-1-phosphate uridyltransferase 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

Gaucher disease

Acid beta-glucosidase deficiency · Glucocerebrosidase deficiency

Glutaric acidemia type 3

Glutaric aciduria type 3 · Glutaryl-CoA oxidase deficiency

Glutathione synthetase deficiency

Pyroglutamicaciduria

Glycerol kinase deficiency

Glycogen storage disease due to acid maltase deficiency

Alpha-1,4-glucosidase acid deficiency · GSD due to acid maltase deficiency

Glycogen storage disease due to acid maltase deficiency, late-onset

GSD type II, late-onset · Glycogen storage disease type II, late-onset

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 muscle beta-enolase deficiency

GSD due to muscle beta-enolase deficiency · GSDXIII

Glycogen storage disease due to muscle glycogen phosphorylase deficiency

GSD due to muscle glycogen phosphorylase deficiency · GSD type 5

Glycogen storage disease due to phosphoglucomutase deficiency

GSD due to phosphoglucomutase deficiency · GSD type 14

GM1 gangliosidosis

Beta-galactosidase-1 deficiency · GLB1 deficiency

GM3 synthase deficiency

ST3GAL5-CDG

Guanidinoacetate methyltransferase deficiency

GAMT deficiency

Hemolytic anemia due to glucophosphate isomerase deficiency

Glucose-6-phosphate isomerase deficiency · GPI deficiency

HSD10 disease

2-methyl-3-hydroxybutyric aciduria · 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency

Krabbe disease

GALC deficiency · Galactocerebrosidase deficiency

Malonic aciduria

Malonyl-CoA decarboxylase deficiency · Malonic acidemia

Medium chain acyl-CoA dehydrogenase deficiency

ACADM deficiency · Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency

Methionine adenosyltransferase I/III deficiency

MAT I/III deficiency · Mudd's disease

Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency

MCEE deficiency · Methylmalonic acidemia due to methylmalonyl-CoA racemase deficiency

MOGS-CDG

CDG syndrome type IIb · CDG-IIb

Mucopolysaccharidosis type 7

Beta-glucuronidase deficiency · MPS7

Multiple acyl-CoA dehydrogenase deficiency

Glutaric acidemia type 2 · Glutaric aciduria type 2

Myeloperoxidase deficiency

MPO deficiency

Obesity due to melanocortin 4 receptor deficiency

MC4R deficiency

PGM1-CDG

CDG syndrome type It · CDG-It

Pseudo-Zellweger syndrome

Thiolase deficiency