Rare Disease Library

Alkaptonuria

Hereditary ochronosis · Homogentisic acid oxidase deficiency

Autosomal recessive extra-oral halitosis

Methanethiol oxidase deficiency · MTO-deficiency

Farber disease

Acid ceramidase deficiency · Farber lipogranulomatosis

Gaucher disease

Acid beta-glucosidase deficiency · Glucocerebrosidase deficiency

Glutaric acidemia type 3

Glutaric aciduria type 3 · Glutaryl-CoA oxidase deficiency

Glycogen storage disease due to acid maltase deficiency

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

Heme oxygenase-1 deficiency

HO-1 deficiency

Histidinemia

HAL deficiency · HIS deficiency

Homocarnosinosis

Homocarnosinase deficiency

Hyperprolinemia type 1

Proline oxidase deficiency

Isolated sulfite oxidase deficiency

ISOD · Sulfocysteinuria

Isovaleric acidemia

Isovaleric acid CoA dehydrogenase deficiency

Lipoic acid synthetase deficiency

Lysosomal acid lipase deficiency

LAL deficiency · LALD

Microcephaly-congenital cataract-psoriasiform dermatitis syndrome

Sterol-C4-methyl oxidase deficiency · SMO deficiency

Monoamine oxidase A deficiency

Brunner syndrome

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

Sjögren-Larsson syndrome

Fatty acid alcohol oxidoreductase deficiency

Variegate porphyria

Protoporphyrinogen oxidase deficiency · Porphyria variegata

Xanthinuria type I

XDH deficiency · XO deficiency