Patients living with:
(MMA) Methlymalonic Acidemia (all mutations, including CMAMMA)
Data highlights from the Invitae Patient Insights Network
Who are we?
Patients: 33 Ages: 9 to 59
Impact on our lives
Frequent doctor visits
67%
2 - 6 times a year
33%
One time a year
Major episodes of care
44%
been admitted to hospital
A combination of treatments
Over-the-counter supplements, vitamins, herbs, remedies 33%
Prescription medication 33%
Special diet/nutrition 33%
Getting diagnosed
Initial symptoms
- No symptoms
- Shortness of breath
- Weight changes
Average age at diagnosis
<1
48
Youngest
AGE RANGE
Oldest
Diagnosing specialty
- Genetics
- Metabolism
- Emergency Medicine
Patients everywhere are eager to help find better treatments
91% want to be contacted about trials
Brought to you by:
Blood tests
Genetic Testing
Biopsy
Urine tests
Newborn screening 
