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Combined malonic and methylmalonic acidemia

Synonym(s) CMAMMA
Combined malonic and methylmalonic aciduria
Prevalence Unknown
Inheritance Autosomal dominant
or Autosomal recessive
Age of onset All ages
  • E71.1
MeSH -
MedDRA -


Disease definition

Combined malonic and methylmalonic academia (CMAMMA) is a rare inborn error of metabolism characterized by elevations 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.

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