Combined Malonic and Methylmalonic Aciduria malady

NIH Rare Diseases: Combined malonic and methylmalonic aciduria (CMAMMA) is an inherited condition in which certain chemicals accumulate in the blood and urine of affected individuals. People with CMAMMA can have a wide variety of symptoms. Children with CMAMMA can suffer from developmental delays and a failure to gain weight and grow (failure to thrive). In those who were identified as adults, symptoms may include psychiatric features and neurological problems that can mimic Alzheimer's disease and multiple sclerosis. Recently, researchers have found that mutations in the ACSF3 gene cause CMAMMA.³⁰

MalaCards: Combined Malonic and Methylmalonic Aciduria, also known as cmamma, is related to hypotonia and methylmalonic acidemia. An important gene associated with Combined Malonic and Methylmalonic Aciduria is ACSF3 (acyl-CoA synthetase family member 3). The compound acetyl-coa have been mentioned in the context of this disorder.

combined malonic and methylmalonic aciduria 30 cmamma 30

Diseases related to combined malonic and methylmalonic aciduria by text searches and GeneDecks gene sharing:

id	Related Disease	Score	Top Affiliating Genes
1	hypotonia	12.1	MLYCD, ACSF3
2	methylmalonic acidemia	12.0	MLYCD, ACSF3
3	hypoglycemia	11.8	MLYCD, ACSF3

Approved drugs:

Drug clinical trials:

Articles related to combined malonic and methylmalonic aciduria:

id	Title	Authors	Year	Affiliating Genes
1	Combined malonic and methylmalonic aciduria: exome se quencing reveals mutations in the ACSF3 gene in patients with a non-classic phe notype. (21785126)	Alfares A.... Braverman N.	2011	ACSF3
2	Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria. (21841779)	Sloan J.L.... Venditti C.P.	2011	ACSF3
3	Combined malonic and methylmalonic aciduria with normal malonyl-coenzyme A decarboxylase activity: a case supporting multiple aetiologies. (9700595)	Gregg A.R.... O'Brien W.E.	1998	MLYCD

Genes related to combined malonic and methylmalonic aciduria according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	ACSF3	acyl-CoA synthetase family member 3	11.1	Publications, Summaries
2	MLYCD	malonyl-CoA decarboxylase	11.0	Publications

Compounds related to combined malonic and methylmalonic aciduria according to GeneDecks:

id	Compound	Score	Top Affiliating Genes
1	acetyl-coa32 18	10.1	MLYCD, ACSF3

Cellular components related to combined malonic and methylmalonic aciduria according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	mitochondrion	GO:005739	9.1	MLYCD, ACSF3

Biological processes related to combined malonic and methylmalonic aciduria according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	fatty acid biosynthetic process	GO:006633	9.1	MLYCD, ACSF3