OBO ID: DOID:0060740
Term Name: methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Search Ontology:
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)
OTHER methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
MMUT Methylmalonic aciduria, mut(0) type 251000
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None