homocystinuria without methylmalonic aciduria
Homocystinuria without methylmalonic aciduria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, encephalopathy and, sometimes, developmental delay, and associated with homocystinuria and hyperhomocysteinemia. There are three types of homocystinuria without methylmalonic aciduria; cblE, cblG and cblD-variant 1 (cblDv1).
MONDO:0004737
homocystinuria
is_a
MONDO:0006025
autosomal recessive disease
is_a
MONDO:0016624
hereditary anemia
is_a
MONDO:0019220
inborn disorder of cobalamin metabolism and transport
is_a
functional methionine synthase deficiency
exact
homocystinuria without methylmalonic aciduria
exact
methylcobalamin deficiency
exact
SPAC57A7.07c SPBC12C2.03c SPAC1783.01