Rare Disease Library

Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.

Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"

13 matching diseasesClear search ×

Glutaryl-CoA dehydrogenase deficiency

GA1 · GCDHD

ORPHA:25

2-hydroxyglutaric aciduria

2-hydroxyglutaric acidemia

ORPHA:19

3-methylglutaconic aciduria type 1

3-methylglutaconyl-CoA hydratase deficiency · 3MG-CoA hydratase deficiency

ORPHA:67046

D-2-hydroxyglutaric aciduria

D-2-HGA · D-2-hydroxyglutaric acidemia

ORPHA:79315

D-glyceric aciduria

D-glycerate kinase deficiency · D-glyceric acidemia

ORPHA:941

D,L-2-hydroxyglutaric aciduria

Combined D-2-hydroxyglutaric acidemia and L-2-hydroxyglutaric acidemia · Combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria

ORPHA:356978

Glutaric acidemia type 3

Glutaric aciduria type 3 · Glutaryl-CoA oxidase deficiency

ORPHA:35706

L-2-hydroxyglutaric aciduria

L-2-HGA · L-2-hydroxyglutaric acidemia

ORPHA:79314

Multiple acyl-CoA dehydrogenase deficiency

Glutaric acidemia type 2 · Glutaric aciduria type 2

ORPHA:26791

Multiple acyl-CoA dehydrogenase deficiency, mild type

MAD deficiency, mild type · MADD, mild type

ORPHA:394532

Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type

MAD deficiency, severe neonatal type · Glutaric aciduria type 2, severe neonatal type

ORPHA:394529

Oxoglutaric aciduria

Alpha-ketoglutarate dehydrogenase deficiency

ORPHA:31

Transient neonatal multiple acyl-CoA dehydrogenase deficiency

Transient neonatal MAD deficiency · Transient neonatal MADD

ORPHA:329942