methylcobalamin deficiency type cblE
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
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
SPAC1783.01 SPBC12C2.03c