Combined malonic and methylmalonic acidemia

Orpha code: 289504OMIM code: 614265

Definicja

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.

Disease data
Klasyfikacja

Disease

Synonimy
CMAMMA
CMAMMA
Złożona acyduria malonowa i metylomalonowa
Combined malonic and methylmalonic aciduria
Kod ORPHA
289504
Kod OMIM
614265
Kod ICD10
E71.1
Kod ICD11
-

No additional description.

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