Rare Disease Library

Mucolipidosis type II

I-cell disease · N-acetylglucosamine 1-phosphotransferase deficiency

Mucopolysaccharidosis type 7

Beta-glucuronidase deficiency · MPS7

Ornithine transcarbamylase deficiency

OCT deficiency · OTC deficiency

PGM1-CDG

CDG syndrome type It · CDG-It

Pyruvate dehydrogenase E3-binding protein deficiency

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

Sanfilippo syndrome type C

HGSNAT deficiency · Heparan-alpha-glucosaminide N-acetyltransferase deficiency

Succinyl-CoA:3-oxoacid CoA transferase deficiency

OXCT1 deficiency · SCOT deficiency

Transaldolase deficiency

TALDO deficiency

Transcobalamin I deficiency

Haptocorrin deficiency · TCI deficiency

Transketolase deficiency

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

Tyrosinemia type 2

Keratosis palmoplantaris-corneal dystrophy syndrome · Oculocutaneous tyrosinemia