Combined malonic and methylmalonic acidemia

MONDO:0013661

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.

Also known as: CMAMMA, combined malonic and methylmalonic acidemia, combined malonic and methylmalonic aciduria

0 clinical trials for this condition and its sub-types.

Follow this condition — get notified about new trials

Broader categories

Disease (680) Metabolic disease (233) Hereditary disease (176) Inborn errors of metabolism (45) Human disease (14) Methylmalonic acidemia (7) Inborn organic aciduria (5) Inborn disorder of amino acid metabolism (4) Disease of genetic or genomic mechanism (2) Amino acid metabolism disease (1)

We haven't found any trials for this condition yet. Follow it to get notified when new trials appear.