An observational study in Malonic Aciduria and Methylmalonic Acidemia, sponsored by McGill University Health Centre/Research Institute of the McGill University Health Centre. Status unknown at 1 site in Canada. Per ClinicalTrials.gov, last updated 2011-02-08.
Sponsored by McGill University Health Centre/Research Institute of the McGill University Health Centre · Observational
The investigators are interested in learning more about the changes found in the condition called "Combined elevation of Malonic and MethylMalonic Acid, or CMAMMA. " Malonic, or MA and MethylMalonic, or MMA, are acids formed from the breakdown of protein under normal conditions. However, in the condition called CMAMMA there is an increase of these acids in the blood and urine, which is not normal.
Some people with high MA and MMA in their blood and urine have a serious disease, starting as a baby or young child that includes heart disease and problems in learning. These people have changes in a special enzyme called Malonyl CoA Decarboxylase (MCD). Other people who have a high level of MA and MMA do not have any obvious illness. The investigators are not sure why they have high levels of MA and MMA and why they are not sick.
The goal of this study is to learn more about why some people have a high level of MA and MMA and to make sure there are no medical problems as a result of these high levels. The investigators also want to find out which gene and enzyme cause the high levels of MA and MMA.
McGill University Health Centre/Research Institute of the McGill University Health Centre is the lead sponsor of 414 studies on the registry; 106 are open to participants now.
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Biochemical Genetics clinics patients with non-classical CMAMMA
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This study is status unknown, as verified in Oct 2010. You cannot join it, but the record below documents what was studied.
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McGill University Health Centre/Research Institute of the McGill University Health Centre