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).
MONDO:0002012
methylmalonic acidemia
is_a
MONDO:0004737
homocystinuria
is_a
MONDO:0016624
hereditary anemia
is_a
MONDO:0019215
classic organic aciduria
is_a
MONDO:0019220
inborn disorder of cobalamin metabolism and transport
is_a
combined defect in adenosylcobalamin and methylcobalamin synthesis
exact
methylmalonic acidemia and homocystinemia
related
methylmalonic aciduria with homocystinuria
exact
SPCC576.03c