Rare Disease Library

Biotinidase deficiency

Juvenile-onset multiple carboxylase deficiency · Late-onset multiple carboxylase deficiency

3-methylcrotonyl-CoA carboxylase deficiency

3-methylcrotonylglycinuria · MCC deficiency

ALDH18A1-related De Barsy syndrome

Delta-1-pyrroline 5-carboxylate synthetase deficiency · Neurocutaneous syndrome, Bicknell type

Allan-Herndon-Dudley syndrome

AHDS · MCT8 deficiency

Citrullinemia type II

Adult-onset citrin deficiency · CTLN2

Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome

Ornithine decarboxylase deficiency · Bachmann-Bupp syndrome

Glycogen storage disease due to acid maltase deficiency, late-onset

GSD type II, late-onset · Glycogen storage disease type II, late-onset

Hereditary orotic aciduria

Orotidylic decarboxylase deficiency · Uridine monophosphate synthetase deficiency

Holocarboxylase synthetase deficiency

Early-onset multiple carboxylase deficiency · Neonatal multiple carboxylase deficiency

Hyperprolinemia type 2

Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency

Late-onset combined immunodeficiency due to ICOS deficiency

Late-onset CID due to ICOS deficiency · Late-onset combined immunodeficiency due to inducible T-cell costimulator protein deficiency

Late-onset combined immunodeficiency due to ICOSL deficiency

Late-onset CID due to ICOSL deficiency · Late-onset combined immunodeficiency due to inducible T cell costimulator ligand protein deficiency

Late-onset isolated ACTH deficiency

Malonic aciduria

Malonyl-CoA decarboxylase deficiency · Malonic acidemia

Multiple acyl-CoA dehydrogenase deficiency

Glutaric acidemia type 2 · Glutaric aciduria type 2

Multiple carboxylase deficiency

MCD

Multiple sulfatase deficiency

MSD · Austin disease

Propionic acidemia

Ketotic hyperglycinemia · Propionic aciduria

PYCR1-related De Barsy syndrome

PYCR1 deficiency · Pyrroline-5-carboxylate reductase 1 deficiency

Pyruvate carboxylase deficiency

Ataxia with lactic acidosis type 2 · Ataxia with lactic acidosis type II

Pyruvate carboxylase deficiency, benign type

Pyruvate carboxylase deficiency type C

Pyruvate carboxylase deficiency, infantile type

Pyruvate carboxylase deficiency type A

Pyruvate carboxylase deficiency, severe neonatal type

Pyruvate carboxylase deficiency type B

Pyruvate dehydrogenase E1-alpha deficiency

PDHAD · Pyruvate decarboxylase deficiency