Rare Disease Library

Vitamin B12-responsive methylmalonic acidemia

Adenosylcobalamin deficiency · Vitamin B12-responsive methylmalonic aciduria

Acyl-CoA dehydrogenase 9 deficiency

ACAD9 deficiency

Adenine phosphoribosyltransferase deficiency

2,8-dihydroxyadenine urolithiasis · APRT deficiency

Adenosine monophosphate deaminase deficiency

AMP deaminase deficiency · Myoadenylate deaminase deficiency

Adenylosuccinate lyase deficiency

ADSL deficiency · Adenylosuccinase deficiency

AICA-ribosiduria

5-amino-4-imidazole carboxamide ribosiduria · ATIC deficiency

Aminoacylase deficiency

Argininosuccinic aciduria

ASA deficiency · ASL deficiency

Aromatic L-amino acid decarboxylase deficiency

AADC deficiency

Canavan disease

ACY2 deficiency · Aminoacylase 2 deficiency

Citrullinemia type I

ASS deficiency · Argininosuccinate synthase deficiency

Congenital bile acid synthesis defect type 4

2-methylacyl-CoA racemase deficiency · AMACR deficiency

Deficiency of adenosine deaminase 2

Adenosine deaminase 2 deficiency · ADA2 deficiency

Epileptic encephalopathy with global cerebral demyelination

AGC1 deficiency · Mitochondrial aspartate-glutamate carrier 1 deficiency

Homocystinuria without methylmalonic aciduria

Functional methionine synthase deficiency · Methylcobalamin deficiency

Hyper-IgM syndrome type 2

AID deficiency · Activation-induced cytidine deaminase deficiency

Krabbe disease

GALC deficiency · Galactocerebrosidase deficiency

L-Arginine:glycine amidinotransferase deficiency

AGAT deficiency

Medium chain acyl-CoA dehydrogenase deficiency

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

Methylcobalamin deficiency type cblDv1

Functional methionine synthase deficiency type cblDv1

Methylcobalamin deficiency type cblE

Functional methionine synthase deficiency type cblE

Methylcobalamin deficiency type cblG

Functional methionine synthase deficiency type cblG

Mucopolysaccharidosis type 6

ARSB deficiency · ASB deficiency

Reticular dysgenesis

AK2 deficiency · De Vaal disease

S-adenosylhomocysteine hydrolase deficiency

Severe combined immunodeficiency due to adenosine deaminase deficiency

ADA deficiency · SCID due to adenosine deaminase deficiency

Short chain acyl-CoA dehydrogenase deficiency

ACADS deficiency · SCAD deficiency

Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome

ASCT1 deficiency · Spastic quadriplegia-thin corpus callosum-progressive postnatal microcephaly syndrome

Transcobalamin deficiency

Inherited deficiency of transcobalamin · Transcobalamin II deficiency

Transcobalamin I deficiency

Haptocorrin deficiency · TCI deficiency