methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
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.
MONDO:0002012
methylmalonic acidemia
is_a
MCEE deficiency
exact
methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
exact
methylmalonic acidemia due to methylmalonyl-CoA racemase deficiency
exact
methylmalonic aciduria due to methylmalonyl-CoA epimerase deficiency
exact
methylmalonic aciduria due to methylmalonyl-CoA racemase deficiency
exact