Methylmalonic aciduria and homocystinuria

An inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. There are four complementation classes of cobalamin defects (cblC, cblD, cblF and cblJ) that are responsible for methylmalonic acidemia - homocystinuria (methylmalonic acidemia - homocystinuria cblC, cblD cblF and cblJ).

Also known as: combined defect in adenosylcobalamin and methylcobalamin synthesis, methylmalonic aciduria with homocystinuria, methylmalonic acidemia and homocystinemia

24 clinical trials for this condition and its sub-types, 1 tagged with Methylmalonic aciduria and homocystinuria itself.