Rare Disease Library

Beta-ketothiolase deficiency

3-ketothiolase deficiency · 3-oxothiolase deficiency

Medium chain acyl-CoA dehydrogenase deficiency

ACADM deficiency · Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency

Mitochondrial pyruvate carrier deficiency

Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency

Crotonase deficiency · ECHS1D

Mitochondrial trifunctional protein deficiency

TFP deficiency · TFPD

Pseudo-Zellweger syndrome

Thiolase deficiency

Vitamin B12-unresponsive methylmalonic acidemia

Methylmalonyl-Coenzyme A mutase deficiency · Vitamin B12-unresponsive methylmalonic aciduria