Synonyms: CMAMMA | Combined malonic and methylmalonic aciduria
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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2026
Newly diagnosed with
Combined malonic and methylmalonic acidemia?
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Advocacy Organizations
Louisiana Metabolic Disorders Coalition
We support, educate, and advocate for patients & families affected by metabolic disorders.
Mississippi Metabolics Foundation
Our mission at Mississippi Metabolics Foundation (MMF) is to advocate, educate, and support families in MS affected by genetic metabolic disorders/inborn errors of metabolism (IEM's). MMF promotes initiatives and further advancements in legislation, education, research, clinical trials, studies, therapies, targeted treatments, and eventual cures for IEM’s and all rare diseases.
Organic Acidemia Association
We are a 501c3 non-profit organization made up of parents of children with organic acidemia metabolic disorders. Organic Acidemias are a group of inheritable genetic metabolic disorders in which there is a defect in protein metabolism where an essential enzyme is absent or malfunctioning. Our mission is to empower families and health care professionals with knowledge in these disorders. We suppor
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Clinical Trials
For a list of clinical trials in this disease area, please click here.