Patients living with:
(GA-I) Glutaryl CoA Dehydrogenase Deficiency Type I aka Glutaric Acidemia Type I
Data highlights from the Invitae Patient Insights Network
Who are we?
Patients: 13 Ages: 10 to 45
Impact on our lives
Frequent doctor visits
50%
2 - 6 times a year
50%
7 - 11 times a year
Major episodes of care
46%
been admitted to hospital
A combination of treatments
Prescription medication 33%
Special diet/nutrition 33%
Medical foods 17%
Getting diagnosed
Initial symptoms
- Abnormal laboratory findings
- Changes in appetite
- Malaise
Average age at diagnosis
<1
9
Youngest
AGE RANGE
Oldest
Patients everywhere are eager to help find better treatments
100% want to be contacted about trials
Brought to you by:
Blood tests
Urine tests
EEG (electroencephalogram, examines brain waves)
Genetic Testing
MRI
