methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency

methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency

http://purl.obolibrary.org/obo/DOID_0060740

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. [ url:https://www.ncbi.nlm.nih.gov/pubmed/1975493 http://purl.obolibrary.org/obo/ECO_0007645 url:https://www.ncbi.nlm.nih.gov/pubmed/1977311 ]

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

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MIM:251000
ORDO:27
MESH:C565390
ICD10CM:E71.1

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disease_ontology

DOID:0060740

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methylmalonic acidemia
disease has basis in some structural_variant