Rare Disease Library

Vitamin B12-unresponsive methylmalonic acidemia type mut-

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

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

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 mut0

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