Rare Disease Library

Glutaric acidemia type 3

Glutaric aciduria type 3 · Glutaryl-CoA oxidase deficiency

3-hydroxy-3-methylglutaric aciduria

3-hydroxy-3-methylglutaryl-CoA lyase deficiency · HMG-CoA lyase deficiency

3-hydroxy-3-methylglutaryl-CoA synthase deficiency

HMG-CoA synthase deficiency

3-methylglutaconic aciduria type 1

3-methylglutaconyl-CoA hydratase deficiency · 3MG-CoA hydratase deficiency

Acatalasemia

Catalase deficiency

Acyl-CoA dehydrogenase 9 deficiency

ACAD9 deficiency

Acyl-CoA dehydrogenase deficiency

Alkaptonuria

Hereditary ochronosis · Homogentisic acid oxidase deficiency

Autosomal recessive extra-oral halitosis

Methanethiol oxidase deficiency · MTO-deficiency

Beta-ketothiolase deficiency

3-ketothiolase deficiency · 3-oxothiolase deficiency

Biotinidase deficiency

Juvenile-onset multiple carboxylase deficiency · Late-onset multiple carboxylase deficiency

Chronic diarrhea due to glucoamylase deficiency

Maltase-glucoamylase deficiency

Coenzyme Q10 deficiency

Primary coenzyme Q10 deficiency · CoQ10 deficiency

Complement component 3 deficiency

C3 deficiency

Congenital bile acid synthesis defect type 4

2-methylacyl-CoA racemase deficiency · AMACR deficiency

Farber disease

Acid ceramidase deficiency · Farber lipogranulomatosis

Fructose-1,6-bisphosphatase deficiency

FBPase deficiency · Fructose-1,6-diphosphatase deficiency

Gamma-glutamyl transpeptidase deficiency

Glutathionuria · Gamma-glutamyl transferase deficiency

Gaucher disease

Acid beta-glucosidase deficiency · Glucocerebrosidase deficiency

Glutamate-cysteine ligase deficiency

Gamma-glutamylcysteine synthetase deficiency

Glutaryl-CoA dehydrogenase deficiency

GA1 · GCDHD

Glutathione synthetase deficiency

Pyroglutamicaciduria

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 glycogen debranching enzyme deficiency

GSDIII · Glycogen storage disease type 3

GM1 gangliosidosis

Beta-galactosidase-1 deficiency · GLB1 deficiency

Histidinemia

HAL deficiency · HIS deficiency

Hyaluronidase deficiency

MPS9 · MPSIX

Hyperprolinemia type 1

Proline oxidase deficiency

Isobutyryl-CoA dehydrogenase deficiency

Isobutyric aciduria

Isolated cytochrome C oxidase deficiency

Isolated COX deficiency · Isolated mitochondrial respiratory chain complex IV deficiency

Isolated sulfite oxidase deficiency

ISOD · Sulfocysteinuria

Malonic aciduria

Malonyl-CoA decarboxylase deficiency · Malonic acidemia

Microcephaly-congenital cataract-psoriasiform dermatitis syndrome

Sterol-C4-methyl oxidase deficiency · SMO deficiency

Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency

Crotonase deficiency · ECHS1D

MOGS-CDG

CDG syndrome type IIb · CDG-IIb

Monoamine oxidase A deficiency

Brunner syndrome

Mucopolysaccharidosis type 7

Beta-glucuronidase deficiency · MPS7

Myeloperoxidase deficiency

MPO deficiency

OBSOLETE: Familial hyperreninemic hypoaldosteronism type 1

OBSOLETE: 18-hydroxylase deficiency · OBSOLETE: Aldosterone synthase deficiency

Peroxisomal acyl-CoA oxidase deficiency

Pseudo-NALD · Pseudo-neonatal adrenoleukodystrophy

Progressive encephalopathy with leukodystrophy due to DECR deficiency

2,4-dienoyl-CoA reductase deficiency · DECR deficiency with hyperlysinemia

Prolidase deficiency

Hyperimidodipeptiduria

Propionic acidemia

Ketotic hyperglycinemia · Propionic aciduria

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

Sanfilippo syndrome type B

MPS3B · MPSIIIB

Succinyl-CoA:3-oxoacid CoA transferase deficiency

OXCT1 deficiency · SCOT deficiency

Variegate porphyria

Protoporphyrinogen oxidase deficiency · Porphyria variegata