Term Name: methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Synonyms: methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency, vitamin B12-unresponsive methylmalonic aciduria
Definition: A methylmalonic acidemia characterized by accumulation of methylmalonic acid in the blood that is unresponsive to vitamn B12 therapy and that has_material_basis_in mutation in the MUT gene on chromosome 6p12.3.
Ontology: Human Disease [DOID:0060740]   ( DOID:0060740 )

Relationships
is a type of: methylmalonic acidemia