Methylmalonic aciduria and homocystinuria type cblF

A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. The disorder is caused by mutations in the LMBRD1 gene (6q13) and is transmitted in an autosomal recessive manner.

Also known as: cblF defect, cobalamin F defect, combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblF, inherited methylmalonic acidemia and homocystinuria, lysosomal membrane cobalamin transporter deficiency, methylmalonic aciduria and homocystinuria type cblF, methylmalonic aciduria with homocystinuria, type cblF, MAHCF

19 clinical trials for this condition and its sub-types.