Rare Disease Library

Combined malonic and methylmalonic acidemia

CMAMMA · Combined malonic and methylmalonic aciduria

Cataract-combined malonic and methylmalonic aciduria-intellectual disability syndrome

ZBTB11-related neurodevelopmental disorder

2-methylbutyryl-CoA dehydrogenase deficiency

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

3-methylglutaconic aciduria

3-methylglutaconic aciduria type 3

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

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

Homocystinuria without methylmalonic aciduria

Functional methionine synthase deficiency · Methylcobalamin deficiency

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

Methylmalonic aciduria due to transcobalamin receptor defect

Methylmalonic acidemia, TCb1R type · Methylmalonic acidemia, TCbIR type

Mevalonic aciduria

Complete mevalonate kinase deficiency · MVA

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-unresponsive methylmalonic acidemia

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