Combined malonic and methylmalonic aciduria
Definition:
Combined malonic and methylmalonic aciduria (CMAMMA) is a rare recessive inborn error of metabolism characterised by elevations of urine malonic acid and methylmalonic acid. Unlike classic phenotype of methylmalonic acidemia, malonyl-CoA decarboxylase activity is normal. Mutations in ACSF3 have been identified as a cause of CMAMMA. ACSF3 encodes an enzyme that catalyzes the initial reaction in intramitochondrial fatty acid synthesis.
References:
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[1]. Ahmed Alfares, et al. Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype. J Med Genet. 2011 Sep;48(9):602-5. [Content Brief]
[2]. Jennifer L Sloan, et al. Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria. Nat Genet. 2011 Aug 14;43(9):883-6. [Content Brief]
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