Rare Disease Library

Pyruvate dehydrogenase E3 deficiency

DLD deficiency · Dihydrolipoamide dehydrogenase deficiency

Pyruvate dehydrogenase E3-binding protein deficiency

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

Succinyl-CoA:3-oxoacid CoA transferase deficiency

OXCT1 deficiency · SCOT deficiency

Sulfite oxidase deficiency due to molybdenum cofactor deficiency

Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase · MOCOD

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A

Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type A · MOCOD type A

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B

Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type B · MOCOD type B

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C

Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type C · MOCOD type C

Trehalase deficiency

Isolated trehalose intolerance

Variegate porphyria

Protoporphyrinogen oxidase deficiency · Porphyria variegata

Xanthinuria type II

XDH and AOX dual deficiency · Xanthine dehydrogenase and xanthine aldehyde oxidase dual deficiency