Combined malonic and methylmalonic acidemia

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Combined malonic and methylmalonic acidemia

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 September 2023.

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Combined malonic and methylmalonic acidemia?

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Advocacy Organizations

Organic Acidemia Association

Our mission is to empower families and health care professionals with knowledge in these disorders. We support early intervention through expanded newborn screening, solicit contributions, and distribute funding that supports research toward improved treatment, and eventual cures in the areas of Organic Acid disorders.

Mississippi Metabolics Foundation

Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).

Clinical Trials

For a list of clinical trials in this disease area, please click here.