Combined malonic and methylmalonic acidemia

Orpha code: 289504OMIM code: 614265

Definition

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
Classification

Disease

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

No additional description.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl