has material basis in germline mutation in MCEE methylmalonic acidemia methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency https://github.com/monarch-initiative/mondo/issues/4985 https://www.malacards.org/card/methylmalonic_acidemia_due_to_methylmalonyl_coa_epimerase_deficiency https://www.malacards.org/card/methylmalonyl_coa_epimerase_deficiency Orphanet:308425 methylmalonic acidemia due to methylmalonyl-CoA racemase deficiency UMLS:C1855100 SCTID:765137006 Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency is a rare inborn error of metabolism disease characterized by mild to moderate, persistent elevation of methylmalonic acid in plasma, urine and cerebrospinal fluid. Clinical presentation may include acute metabolic decompensation with metabolic acidosis (presenting with vomiting, dehydration, confusion, hallucinations), nonspecific neurological symptoms, or may also be asymptomatic. methylmalonic aciduria due to methylmalonyl-CoA racemase deficiency methylmalonic aciduria due to methylmalonyl-CoA epimerase deficiency OMIM:251120 GARD:0017390 MONDO:0009615 MEDGEN:344419 methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency MESH:C565386 MCEE deficiency