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?

Who Are We?

Patients: 13 Ages: 2 to 38

Male
54% Male
Female
46% Female

Impact on our lives

iImpact On Our Lives

Frequent doctor visits

50% 2 - 6 times a year
50% 7 - 11 times a year

Major episodes of care

been to the ER
50% been to the ER
been admitted to hospital
46% been admitted to hospital
had surgery
4% had surgery

A combination of treatments

image description
Prescription medication 33% Special diet/nutrition 33% Medical foods 17%

Getting diagnosed

Getting diagnosed

Initial symptoms

Initial Symptoms
  • Abnormal laboratory findings
  • Changes in appetite
  • Malaise

Average age at diagnosis

Average Age at Diagnosis
1 Year(s) old
<1 9
Youngest AGE RANGE Oldest

Extensive testing

  • Blood testsBlood tests
  • Urine testsUrine tests
  • EEG (electroencephalogram, examines brain waves)EEG (electroencephalogram, examines brain waves)
  • Genetic TestingGenetic Testing
  • MRIMRI

Different types of tests

Different Types of Tests
7

Diagnosing specialty

  • Genetics
  • Metabolism
  • Unsure

Patients everywhere are eager to help find better treatments

Better Treatments

100% want to be contacted about trials

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