Rare Disease Library

Aminoacylase 1 deficiency

ACY1D · N-acyl-L-amino acid amidohydrolase deficiency

Aminoacylase deficiency

Antisynthetase syndrome

AS syndrome · Anti-Jo1 syndrome

Beta-ketothiolase deficiency

3-ketothiolase deficiency · 3-oxothiolase deficiency

Canavan disease

ACY2 deficiency · Aminoacylase 2 deficiency

Citrullinemia type I

ASS deficiency · Argininosuccinate synthase deficiency

Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome

Asparagine synthetase deficiency

Lipoic acid synthetase deficiency

Mitochondrial pyruvate carrier deficiency

Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency

Crotonase deficiency · ECHS1D

Mitochondrial trifunctional protein deficiency

TFP deficiency · TFPD

Progressive external ophthalmoplegia-myopathy-emaciation syndrome

Mitochondrial DNA maintenance syndrome due to MGME1 deficiency · PEO-myopathy-emaciation syndrome

TMEM70-related mitochondrial encephalo-cardio-myopathy

Mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiency · Mitochondrial encephalo-cardio-myopathy due to isolated ATP synthase deficiency