Rare Disease Library

2-methylbutyryl-CoA dehydrogenase deficiency

2-methylbutyric aciduria · Developmental delay due to 2-methylbutyryl-CoA dehydrogenase deficiency

3-hydroxy-3-methylglutaric aciduria

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

3-hydroxyisobutyric aciduria

3-methylglutaconic aciduria

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

Beta-ketothiolase deficiency

3-ketothiolase deficiency · 3-oxothiolase deficiency

Combined malonic and methylmalonic acidemia

CMAMMA · Combined malonic and methylmalonic aciduria

Dilated cardiomyopathy with ataxia

3-methylglutaconic aciduria type 5 · DCMA syndrome

Fumaric aciduria

Fumarase deficiency

HSD10 disease

2-methyl-3-hydroxybutyric aciduria · 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency

HSD10 disease, infantile type

2-methyl-3-hydroxybutyric aciduria, classic type · 2-methyl-3-hydroxybutyric aciduria, infantile type

HSD10 disease, neonatal type

2-methyl-3-hydroxybutyric aciduria, neonatal type · 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, neonatal type

Isobutyryl-CoA dehydrogenase deficiency

Isobutyric aciduria

Malonic aciduria

Malonyl-CoA decarboxylase deficiency · Malonic acidemia

Mevalonic aciduria

Complete mevalonate kinase deficiency · MVA

Multiple acyl-CoA dehydrogenase deficiency

Glutaric acidemia type 2 · Glutaric aciduria type 2

Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency

HIBCH deficiency · Methacrylic aciduria

Succinic semialdehyde dehydrogenase deficiency

4-hydroxybutyric aciduria · Gamma-hydroxybutyric aciduria