Term Name: combined malonic and methylmalonic acidemia
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.
Ontology: Human Disease [DOID:0111263]   ( DOID:0111263 )

Relationships
is a type of: autosomal recessive disease organic acidemia