MMA RESEARCH

When the body cannot metabolize protein, severe metabolic disturbances like those seen in Methylmalonic acidemia (MMA) can result. MMA is a group of inherited genetic disorders that result in the build up of methylmalonic acid in the bloodstream. This build up can lead to severe metabolic ketoacidosis, which can be fatal for the affected patient. The main cause of this disorder is a defect in the conversion of methylmalonyl CoA to succinyl CoA, caused by mutations in the methylmalonyl CoA mutase enzyme or impaired metabolism of vitamin B12. This disorder affects about 1 in 25,000 to 48,000 people. This rate may be higher because some neonatal deaths may be attributed to undiagnosed metabolic disorders... The MMA fund was launched in early 2000, to support ongoing research at the Children's Hospital of Philadelphia (CHOP). The research fund began with a grant obtained through the diligent effort of Marty and Kate Moran (parents of Kayleigh, then age 16 mos.). They worked with their..

Also known as: MMA Research Fund

Primary location: Larose United States