Human genes for combined malonic and methylmalonic acidemia
Combined malonic and methylmalonic acidemia [DOID:0111263]
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.
Synonyms: combined malonic and methylmalonic acidemia, combined malonic and methylmalonic acidemias, DOID:0111263, CMAMMA, combined malonic and methylmalonic aciduria ...