Rare Disease Library

Aminoacylase 1 deficiency

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

Acyl-CoA dehydrogenase 9 deficiency

ACAD9 deficiency

Acyl-CoA dehydrogenase deficiency

Adenosine monophosphate deaminase deficiency

AMP deaminase deficiency · Myoadenylate deaminase deficiency

Aminoacylase deficiency

Argininosuccinic aciduria

ASA deficiency · ASL deficiency

Aromatic L-amino acid decarboxylase deficiency

AADC deficiency

Canavan disease

ACY2 deficiency · Aminoacylase 2 deficiency

Farber disease

Acid ceramidase deficiency · Farber lipogranulomatosis

GTP cyclohydrolase I deficiency

GTPCH deficiency · Hyperphenylalaninemia due to GTP cyclohydrolase deficiency

Long chain acyl-CoA dehydrogenase deficiency

LCAD

Lysosomal acid lipase deficiency

LAL deficiency · LALD

Multiple acyl-CoA dehydrogenase deficiency

Glutaric acidemia type 2 · Glutaric aciduria type 2

Pyruvate dehydrogenase E3-binding protein deficiency

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