Rare Disease Library

Barth syndrome

3-methylglutaconic aciduria type 2 · BTHS

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-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

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

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

Methylmalonic acidemia with homocystinuria type cblF

CblF defect · Cobalamin F defect

Methylmalonic acidemia with homocystinuria, type cblC

CblC defect · Cobalamin C defect

Methylmalonic acidemia with homocystinuria, type cblD

CblD defect · Cobalamin D defect

Methylmalonic acidemia with homocystinuria, type cblJ

CblJ defects · Cobalamin J defect

Methylmalonic acidemia with homocystinuria, type cblX

Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX · Methylmalonic aciduria with homocystinuria, type cblX

Methylmalonic aciduria due to transcobalamin receptor defect

Methylmalonic acidemia, TCb1R type · Methylmalonic acidemia, TCbIR type

Mevalonic aciduria

Complete mevalonate kinase deficiency · MVA

Multiple acyl-CoA dehydrogenase deficiency

Glutaric acidemia type 2 · Glutaric aciduria type 2

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