methylmalonic aciduria due to transcobalamin receptor defectmethylmalonic acidemia, TCblR type
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
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.