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 )
Relationships
is a type of:
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
Your Input Welcome
We welcome your input and comments. Please use this form to recommend updates to the information in ZFIN. We appreciate as much detail as possible and references as appropriate. We will review your comments promptly.
Please check the highlighted fields and try again.
Thank you for submitting comments. Your input has been emailed to ZFIN curators who may contact you if additional information is required.
Oops. Something went wrong. Please try again later.