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.
MONDO:0016826
methylmalonic aciduria and homocystinuria
is_a
MAHCF
related
cblF defect
exact
cobalamin F defect
exact
combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblF
exact
inherited methylmalonic acidemia and homocystinuria
exact
lysosomal membrane cobalamin transporter deficiency
exact
methylmalonic aciduria and homocystinuria type cblF
exact
methylmalonic aciduria with homocystinuria, type cblF
exact