has material basis in germline mutation in ACSF3 methylmalonic acidemia combined malonic and methylmalonic acidemia https://www.malacards.org/card/combined_malonic_and_methylmalonic_aciduria DOID:0111263 Combined malonic and methylmalonic acidemia is a rare inborn error of metabolism characterized by elevation of malonic acid (MA) and methylmalonic acid (MMA) in body fluids, with higher levels of MMA than MA. CMAMMA presents in childhood with metabolic acidosis, developmental delay, dystonia and failure to thrive or in adulthood with seizures, memory loss and cognitive decline. combined malonic and methylmalonic aciduria SCTID:702365002 MONDO:0013661 CMAMMA combined malonic and methylmalonic acidemia MESH:C580002 GARD:0010818 UMLS:C3280314 Orphanet:289504 OMIM:614265 MEDGEN:481944 classic organic aciduria