Malonic Aciduria, Methylmalonic Acidemia
Conditions
Keywords
malonic and methylmalonic aciduria, malonyl-coenzyme A decarboxylase, MLYCD
Brief summary
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.
Interventions
None listed
Sponsors
McGill University Health Centre/Research Institute of the McGill University Health Centre
Study design
Observational model
CASE_ONLY
Time perspective
CROSS_SECTIONAL
Eligibility
Sex/Gender
ALL
Healthy volunteers
Yes
Inclusion criteria
1. Elevated Malonic and Methylmalonic Acid in blood and urine 2. Any age 3. Any sex 4. Asymptomatic
Exclusion criteria
1. Defect in malonyl-coenzyme A decarboxylase (MCD) enzyme 2. History of metabolic acidosis, developmental delay and seizures
Countries
Canada
Contacts
Primary ContactAhmed Alfares, M.B.B.S
Outcome results
None listed