Rare Disease Library

Argininosuccinic aciduria

ASA deficiency · ASL deficiency

3-hydroxy-3-methylglutaric aciduria

3-hydroxy-3-methylglutaryl-CoA lyase deficiency · HMG-CoA lyase deficiency

Adenylosuccinate lyase deficiency

ADSL deficiency · Adenylosuccinase deficiency

Aminoacylase 1 deficiency

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

Arginine vasopressin deficiency

CDI · Neurogenic diabetes insipidus

Argininemia

Arginase 1 deficiency · Arginase deficiency

Aromatic L-amino acid decarboxylase deficiency

AADC deficiency

Citrullinemia type I

ASS deficiency · Argininosuccinate synthase deficiency

Farber disease

Acid ceramidase deficiency · Farber lipogranulomatosis

L-Arginine:glycine amidinotransferase deficiency

AGAT deficiency

Lipoic acid synthetase deficiency

Lysosomal acid lipase deficiency

LAL deficiency · LALD

Lysosomal acid phosphatase deficiency