| Methylmalonic aciduria (predicted) |
| Geno
|
Mag
|
Summary
|
| (C;C)
|
0
|
common in clinvar
|
| (C;T)
|
3
|
Carrier for a methylmalonic aciduria mutation
|
| (T;T)
|
8.8
|
Methylmalonic aciduria (predicted)
|
This is a genotype with recommended actions if clinically confirmed. In brief:
- Be aware that all forms of MMA demonstrate periods of relative health with intermittent metabolic problems, usually associated with infections and stress.
- MMA can vary from severe forms present shortly after birth to less severe, atypical or “benign” forms showing up in adults with relatively mild symptoms.
- Biochemical (blood) tests are generally used to diagnose MMA; see the full report (URL below) for details.
- If diagnosed, common interventions include Medic Alert bracelets, regular vitamin B12 administration, low protein/high carbohydrate diets, stress regulation, and avoiding fasting or increased protein intake.
- Relatives should be evaluated by biochemical testing, and can be tested to establish carrier status.
The full ClinGen Actionability report about Methylmalonic aciduria (MMA) can be found here.
Genetic counseling may be available to you through your health-care network. In the US, genetic counselors may be found via this webpage of the National Society of Genetic Counselors.
