combined malonic and methylmalonic acidemia
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.
MONDO:0002012
methylmalonic acidemia
is_a
MONDO:0019215
classic organic aciduria
is_a
CMAMMA
exact
combined malonic and methylmalonic acidemia
exact
combined malonic and methylmalonic aciduria
exact
SPCC1827.03c