Rare Disease Library

Multiple acyl-CoA dehydrogenase deficiency

Glutaric acidemia type 2 · Glutaric aciduria type 2

2-hydroxyglutaric aciduria

2-hydroxyglutaric acidemia

Barth syndrome

3-methylglutaconic aciduria type 2 · BTHS

D-2-hydroxyglutaric aciduria

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

D-glyceric aciduria

D-glycerate kinase deficiency · D-glyceric acidemia

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

Glutaric acidemia type 3

Glutaric aciduria type 3 · Glutaryl-CoA oxidase deficiency

Glutaryl-CoA dehydrogenase deficiency

GA1 · GCDHD

L-2-hydroxyglutaric aciduria

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

Multiple acyl-CoA dehydrogenase deficiency, mild type

MAD deficiency, mild type · MADD, mild type

Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type

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

Oxoglutaric aciduria

Alpha-ketoglutarate dehydrogenase deficiency

Transient neonatal multiple acyl-CoA dehydrogenase deficiency

Transient neonatal MAD deficiency · Transient neonatal MADD