Patients living with:
(PA) Propionyl CoA Carboxylase Deficiency aka Propionic Acidemia
Data highlights from the Invitae Patient Insights Network
Who are we?
Patients: 11 Ages: 9 to 48
Impact on our lives
Frequent doctor visits
50%
1 - 3 times per month
50%
2 - 6 times a year
Major episodes of care
48%
been admitted to hospital
A combination of treatments
Medical foods 29%
Over-the-counter supplements, vitamins, herbs, remedies 29%
Special diet/nutrition 29%
Getting diagnosed
Initial symptoms
- Changes in appetite
- Fatigue
- Other
Average age at diagnosis
<1
1
Youngest
AGE RANGE
Oldest
Diagnosing specialty
- Metabolism
- Genetics
- Neurology
Patients everywhere are eager to help find better treatments
82% want to be contacted about trials
Brought to you by:
Blood tests
EKG (electrocardiogram, examines heart rhythm)
Genetic Testing
Newborn screening 
EEG (electroencephalogram, examines brain waves)
