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combined malonic and methylmalonic acidemia

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description 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.
Uniprot Description A metabolic disease characterized by malonic and methylmalonic aciduria, with urinary excretion of much larger amounts of methylmalonic acid than malonic acid, in the presence of normal malonyl-CoA decarboxylase activity. Clinical features include coma, ketoacidosis, hypoglycemia, failure to thrive, microcephaly, dystonia, axial hypotonia and/or developmental delay, and neurologic manifestations including seizures, psychiatric disease and/or cognitive decline.
Mondo Term and Equivalent IDs
MONDO:0013661:  combined malonic and methylmalonic acidemia
DOID:0111263: 
GARD:0010818: 
MESH:C580002: 
Orphanet:289504: 
SCTID:702365002: 
UMLS:C3280314: