Rare Disease Library

Multiple acyl-CoA dehydrogenase deficiency, mild type

MAD deficiency, mild type · MADD, mild type

2-hydroxyglutaric aciduria

2-hydroxyglutaric acidemia

3-hydroxy-3-methylglutaric aciduria

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

3-methylglutaconic aciduria type 1

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

3-methylglutaconic aciduria type 3

Autosomal recessive optic atrophy plus syndrome · Autosomal recessive optic atrophy type 3

3-methylglutaconic aciduria type 4

MGA4

3-methylglutaconic aciduria type 8

MGA8

3-methylglutaconic aciduria type 9

3-methylglutaconic aciduria-epilepsy-spasticity-severe intellectual disability syndrome · MGA9

3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome

MGA7 · 3-methylglutaconic aciduria type 7

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

Dilated cardiomyopathy with ataxia

3-methylglutaconic aciduria type 5 · DCMA syndrome

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

Glutaric acidemia type 2 · Glutaric aciduria type 2

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

Primary hyperoxaluria type 2

D-glycerate dehydrogenase deficiency · L-glyceric aciduria

Transient neonatal multiple acyl-CoA dehydrogenase deficiency

Transient neonatal MAD deficiency · Transient neonatal MADD