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, 0 tagged with Combined malonic and methylmalonic acidemia itself.

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↑ Classic organic aciduria (20) ↑ Methylmalonic acidemia (8)

Including sub-types (0) Tagged with Combined malonic and methylmalonic acidemia (0)

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