Search Ontology:
Human Disease

methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency

Term ID
DOID:0060740
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. (2)
References
Ontology
Human Disease   ( DOID:0060740 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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