Rare Disease Library

Methylmalonic aciduria due to transcobalamin receptor defect

Methylmalonic acidemia, TCb1R type · Methylmalonic acidemia, TCbIR type

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

Combined malonic and methylmalonic acidemia

CMAMMA · Combined malonic and methylmalonic aciduria

Dilated cardiomyopathy with ataxia

3-methylglutaconic aciduria type 5 · DCMA syndrome

Malonic aciduria

Malonyl-CoA decarboxylase deficiency · Malonic acidemia

Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency

MCEE deficiency · Methylmalonic acidemia due to methylmalonyl-CoA racemase deficiency

Methylmalonic acidemia with homocystinuria

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

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 acidemia without homocystinuria

Methylmalonic aciduria without homocystinuria

Vitamin B12-responsive methylmalonic acidemia

Adenosylcobalamin deficiency · Vitamin B12-responsive methylmalonic aciduria

Vitamin B12-responsive methylmalonic acidemia type cblA

Vitamin B12-responsive methylmalonic aciduria type cblA

Vitamin B12-responsive methylmalonic acidemia type cblB

Vitamin B12-responsive methylmalonic aciduria, type cblB

Vitamin B12-responsive methylmalonic acidemia, type cblDv2

Vitamin B12-responsive methylmalonic aciduria, type cblDv2

Vitamin B12-unresponsive methylmalonic acidemia

Methylmalonyl-Coenzyme A mutase deficiency · Vitamin B12-unresponsive methylmalonic aciduria

Vitamin B12-unresponsive methylmalonic acidemia type mut-

Partial deficiency of methylmalonyl-CoA mutase · Vitamin B12-unresponsive methylmalonic aciduria type mut-

Vitamin B12-unresponsive methylmalonic acidemia type mut0

Complete deficiency of methylmalonyl-CoA mutase · Vitamin B12-unresponsive methylmalonic aciduria type mut0