Patients living with: Guanidinoacetate Methyltransferase Deficiency (GAMT)

Data highlights from the Invitae Patient Insights Network

Who are we?

Who Are We?

Patients: 66 Ages: 2 to 45

Male
52% Male
Female
45% Female

Impact on our lives

iImpact On Our Lives

Frequent doctor visits

73% 2 - 6 times a year
13% 1 - 3 times per month

Major episodes of care

been admitted to hospital
55% been admitted to hospital
been to the ER
39% been to the ER
had surgery
6% had surgery

A combination of treatments

image description
Prescription medication 32% Over-the-counter supplements, vitamins, herbs, remedies 27% Special diet/nutrition 27%

Getting diagnosed

Getting diagnosed

Initial symptoms

Initial Symptoms
  • Developmental delays
  • Other
  • Gastrointestinal problems

Average age at diagnosis

Average Age at Diagnosis
9 Year(s) old
<1 39
Youngest AGE RANGE Oldest

Extensive testing

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

Different types of tests

Different Types of Tests
9

Diagnosing specialty

  • Neurology
  • Genetics
  • Pediatrics

Patients everywhere are eager to help find better treatments

Better Treatments

92% want to be contacted about trials

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