Patients living with: Guanidinoacetate Methyltransferase Deficiency (GAMT)

Data highlights from the Invitae Patient Insights Network

Who are we?

Who Are We?

Patients: 18 Ages: 2 to 30

61% Male
39% Female

Impact on our lives

iImpact On Our Lives

Frequent doctor visits

80% 2 - 6 times a year
20% 1 - 3 times per month

Major episodes of care

been admitted to hospital
55% been admitted to hospital
been to the ER
36% been to the ER
had surgery
9% had surgery

A combination of treatments

image description
Prescription medication 38% Over-the-counter supplements, vitamins, herbs, remedies 23% Special diet/nutrition 23%

Getting diagnosed

Getting diagnosed

Initial symptoms

Initial Symptoms
  • Developmental delays
  • Gastrointestinal problems
  • Growth delay

Average age at diagnosis

Average Age at Diagnosis
7 Year(s) old
<1 25
Youngest AGE RANGE Oldest

Extensive testing

  • Blood testsBlood tests
  • Genetic TestingGenetic Testing
  • Urine testsUrine tests
  • EEG (electroencephalogram, examines brain waves)EEG (electroencephalogram, examines brain waves)
  • EKG (electrocardiogram, examines heart rhythm)EKG (electrocardiogram, examines heart rhythm)

Different types of tests

Different Types of Tests

Diagnosing specialty

  • Neurology
  • Genetics
  • Pediatrics

Patients everywhere are eager to help find better treatments

Better Treatments

94% want to be contacted about trials

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