Methylmalonic aciduria and homocystinuria type cblC
Methylmalonic aciduria and homocystinuria type cblC
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. cblC type methylmalonic acidemia with homocystinuria is caused by mutations in the MMACHC gene (1p36.3) and is transmitted in an autosomal recessive manner.
Also known as cblC defect, cobalamin C defect, cobalamin c disease, combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC, methylmalonic aciduria and homocystinuria type cblC, methylmalonic aciduria with homocystinuria, type cblC — per MONDO