Term Name: | methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
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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 ) |