OBO ID: DOID:0111263
Term Name: combined malonic and methylmalonic acidemia Search Ontology:
Synonyms:
  • CMAMMA
  • combined malonic and methylmalonic aciduria
Definition: An organic acidemia characterized by elevated levels of methylmalonic acid and malonic acid in body fluids typically resulting in developmental delay and failure to thrive in children and neurological symptoms in adults that has_material_basis_in homozygous or compound heterozygous mutation in ACSF3 on 16q24.3. (2)
References:
Ontology: Human Disease   (DOID:0111263)
OTHER combined malonic and methylmalonic acidemia PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ACSF3 Combined malonic and methylmalonic aciduria 614265
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None