Rare Disease Library

Osteopetrosis with renal tubular acidosis

Carbonic anhydrase 2 deficiency · Guibaud-Vainsel syndrome

3-methylglutaconic aciduria type 1

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

Acatalasemia

Catalase deficiency

Acyl-CoA dehydrogenase deficiency

Adult Refsum disease

Classic Refsum disease · HMSN 4

AICA-ribosiduria

5-amino-4-imidazole carboxamide ribosiduria · ATIC deficiency

Argininemia

Arginase 1 deficiency · Arginase deficiency

Aromatase deficiency

Congenital estrogen deficiency

Canavan disease

ACY2 deficiency · Aminoacylase 2 deficiency

Carnitine-acylcarnitine translocase deficiency

CACT deficiency

Carnosinase deficiency

Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome

Hyaluronidase 2 deficiency · Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-deafness syndrome

Complement component 3 deficiency

C3 deficiency

Fructose-1,6-bisphosphatase deficiency

FBPase deficiency · Fructose-1,6-diphosphatase deficiency

Fumaric aciduria

Fumarase deficiency

Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency

CA-VA deficiency

Isolated hyperchlorhidrosis

Carbonic anhydrase XII deficiency

Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency

Crotonase deficiency · ECHS1D

Multiple carboxylase deficiency

MCD

NAD(P)HX dehydratase deficiency

CARKD deficiency

Propionic acidemia

Ketotic hyperglycinemia · Propionic aciduria

Purine nucleoside phosphorylase deficiency

PNP deficiency · PNPase deficiency

Pyruvate carboxylase deficiency

Ataxia with lactic acidosis type 2 · Ataxia with lactic acidosis type II

Pyruvate carboxylase deficiency, infantile type

Pyruvate carboxylase deficiency type A

Pyruvate dehydrogenase E3-binding protein deficiency

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