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Summary Literature (0)
DOID:0060740 - methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency


Disease Ontology 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.

Synonyms: methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency, methylmalonic aciduria mut type, vitamin B12-unresponsive methylmalonic aciduria

In OMIM:
OMIM:251000 - METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY

In Mondo Disease Ontology:
MONDO:0009612 - methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : mmut

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): genetic disease (is_a), methylmalonic acidemia (is_a)