/methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency

methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency

Rare Disease

MONDO:0009615

Also Known As

MCEE deficiencymethylmalonic acidemia due to methylmalonyl-CoA epimerase deficiencymethylmalonic acidemia due to methylmalonyl-CoA racemase deficiencymethylmalonic aciduria due to methylmalonyl-CoA epimerase deficiencymethylmalonic aciduria due to methylmalonyl-CoA racemase deficiencymethylmalonic aciduria IIImethylmalonic aciduria III, formerlymethylmalonyl-CoA epimerase deficiencymethylmalonyl-Coa epimerase deficiency with sepiapterin reductase deficiencymethylmalonyl-Coa racemase deficiency

Definition

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.