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.
- Genetics Home Reference (GHR) contains information on Combined malonic and methylmalonic aciduria. This website is maintained by the National Library of Medicine.
- The National Human Genome Research Institute's (NHGRI) website has an information page on this topic. NHGRI is part of the National Institutes of Health and supports research on the structure and function of the human genome and its role in health and disease.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Combined malonic and methylmalonic aciduria. Click on the link to view a sample search on this topic.