MMA Study: Study Update

National Human Genome Research Institute

National Institutes of Health
U.S. Department of Health and Human Services


Clinical and Basic Investigations of Methylmalonic Acidemia (MMA) and Related Disorders

Study Update

Recent Publications

Chandler, R. J. and Venditti, C. P. Genetic and genomic systems to study methylmalonic acidemia. Mol Genet Metab, 86(1-2):34-43. 2005. [PubMed]

Chandler, R. J. and Venditti, C. P. Adenovirus-mediated gene delivery rescues a neonatal lethal murine model of mut(0) methylmalonic acidemia. Hum Gene Ther, 19(1):53-60. 2008. [PubMed]

Chandler, R. J. et al. Metabolic phenotype of methylmalonic acidemia in mice and humans: the role of skeletal muscle. BMC Med Genet, 8:64. 2007. [PubMed]

Adams D., Venditti C.P. (February 2008) Disorders of Intracellular Cobalamin Metabolism. GeneReviews at GeneTests: Medical Genetics Information Resource [online database]. Copyright, University of Washington, Seattle, 1997-2008. [PubMed]

Chandler, R. J. et al. Mitochondrial dysfunction in mut methylmalonic acidemia. FASEB J, 23(4):1252-61. 2008. [PubMed]

Bassim, C. W. et al. Enamel defects and salivary methylmalonate in methylmalonic acidemia. Oral Dis, 15(3):196-205. 2009. [PubMed]

Carrillo-Carrasco N., Sloan J., Valle D., Hamosh A. and Venditti C.P. Hydroxycobalamin dose escalation improves metabolic control in cblC. J Inherit Metab Dis, 32:728-731. 2009. [PubMed]

Manoli I, Venditti C.P.: Methylmalonic Acidemia (Sept 2010). GeneReviews at GeneTests: Medical Genetics Information Resource [online database]. Copyright, University of Washington, Seattle, 1997-2010. [PubMed]

Hauser N.S., Manoli, I., Graf J.C., Sloan J., and Venditti C.P. Variable dietary management of methylmalonic acidemia: metabolic and energetic correlations. Am J Clin Nutr, 93(1):47-56. 2011. [PubMed]

Carrillo-Carrasco N., Chandler R.J., and Venditti C.P. Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management. J Inherit Metab Dis, July 12, 2011. [PubMed]

Carrillo-Carrasco N. and Venditti C.P. Combined methylmalonic acidemia and homocystinuria, cblC type. II. Complications, pathophysiology and outcomes. J Inherit Metab Dis, July 12, 2011. [PubMed]

Sloan J.L., Johnston J.J., Manoli I., Chandler R.J., Krause K., Carrillo-Carrasco N., Chandrasekaran S.D., Sysol J.R., O'Brien K., Hauser N.S., Sapp J.C., Dorward H.M., Huizing M., NISC, Barshop B.A., Berry S.A., James P.M., Champaigne N.L., de Lonlay P., Valayannopoulos V., Geschwind M.D., Gavrilov D.K., Nyhan W.L., Biesecker L.G., and Venditti C.P. Exome sequencing identifies ACSF3 as the cause of Combined Malonic and Methylmalonic Aciduria. Nature Genetics, 43(9):883-6. 2011. [PubMed]

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Last Reviewed: April 20, 2012