Combined malonic and methylmalonic aciduria
Other Names for this Disease
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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.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
Last updated: 1/17/2012
- Exome sequencing yields gene discovery in a metabolic disorder, detection of hidden case. National Human Genome Research Institute (NHGRI). August 2011; http://www.genome.gov/27545060. Accessed 1/17/2012.
- Sloan JL et al.. Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria. Nature Genetics. Aug 2011; 43(9):883-6. http://www.ncbi.nlm.nih.gov/pubmed/21841779. Accessed 1/17/2012.
- Alfares A, et al.. Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype. Journal of Medical Genetics. Sept 2011; http://www.ncbi.nlm.nih.gov/pubmed/21785126. Accessed 1/17/2012.
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