methylmalonic aciduria and homocystinuria type cblC
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.
MONDO:0016826
methylmalonic aciduria and homocystinuria
is_a
MONDO:0020127
hereditary peripheral neuropathy
is_a
MAHCC
related
cblC
related
cblC defect
exact
cobalamin C defect
exact
cobalamin c disease
exact
combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC
exact
methylmalonic acidemia and homocystinuria cblC
related
methylmalonic acidemia with homocystinuria type cblC
related
methylmalonic aciduria and homocystinuria cblC
related
methylmalonic aciduria and homocystinuria type cblC
exact
methylmalonic aciduria with homocystinuria, type cblC
exact
SPCC576.03c