Term Name:	methylmalonic acidemia due to transcobalamin receptor defect
Synonyms:	methylmalonic acidemia, TCblR type, methylmalonic aciduria due to transcobalamin receptor defect
Definition:	A methylmalonic acidemia characterized by autosomal recessive inheritance of low uptake of transcobalamin-bound cobalamin, but normal conversion to adenosylcobalamin and methylcobalamin and that has_material_basis_in mutation in the CD320 gene.
Ontology:	Human Disease [DOID:0060741]   ( DOID:0060741 )