Combined Malonic and Methylmalonic Aciduria (CMAMMA): Gene Identification and Outcome Study

McGill University

Status: Unknown

Conditions: Methylmalonic Acidemia; Malonic Aciduria

Study type: Observational

Funder types: Other

Identifiers

NCT01289158

10-131-PED

Details and patient eligibility

About

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.

Enrollment: 6 estimated patients

Sex: All

Volunteers: Accepts Healthy Volunteers

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

Trial design

6 participants in 1 patient group

non-classical CMAMMA, classical CMAMMA