methylcobalamin deficiency type cblE
An autosomal recessive condition caused by mutation(s) in the MTRR gene, encoding methionine synthase reductase. It is characterized by homocystinuria and megaloblastic anemia.
MONDO:0002012
methylmalonic acidemia
excluded_subClassOf
MONDO:0018964
homocystinuria without methylmalonic aciduria
is_a
HMAE
related
functional methionine synthase deficiency type cblE
exact
homocystinuria due to defect in methylation Cbl e
related
homocystinuria-megaloblastic Anaemia due to defect in cobalamin metabolism, cblE complementation type
related
homocystinuria-megaloblastic anemia, cbl e type
exact
homocystinuria-megaloblastic anemia, cblE complementation type
related
methylcobalamin deficiency type cblE
exact
SPBC12C2.03c SPAC1783.01