methylmalonic aciduria and homocystinuria type cblF

Rare Disease

MONDO:0010183

Also Known As

cblF defectcobalamin F defectcobalamin F deficiencycombined defect in adenosylcobalamin and methylcobalamin synthesis, type cblFinherited methylmalonic acidemia and homocystinurialysosomal membrane cobalamin transporter deficiencymethylmalonic aciduria and homocystinuria type cblFmethylmalonic aciduria with homocystinuria, type cblFMAHCFcblF methylmalonic acidemia and homocystinuriacobalamin F diseasecobalamin locus f variantcobalamin, defect in lysosomal release ofmethylmalonic acidemia and homocystinuria, cblF typemethylmalonic acidemia with homocystinuria type cblFmethylmalonic aciduria and homocystinuria, cblF typemethylmalonic aciduria due to vitamin B12-release defectvitamin B12 lysosomal release defectvitamin B12 storage disease

Definition

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.