Search Ontology:
Human Disease

combined malonic and methylmalonic acidemia

Term ID
DOID:0111263
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 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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