Patients living with: (MMA) Methlymalonic Acidemia (all mutations, including CMAMMA)

Data highlights from the Invitae Patient Insights Network

Who are we?

Who Are We?

Patients: 33 Ages: 1 to 51

58% Male
42% Female

Impact on our lives

iImpact On Our Lives

Frequent doctor visits

67% 2 - 6 times a year
33% One time a year

Major episodes of care

been admitted to hospital
44% been admitted to hospital
been to the ER
44% been to the ER
had surgery
13% had surgery

A combination of treatments

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Over-the-counter supplements, vitamins, herbs, remedies 33% Prescription medication 33% Special diet/nutrition 33%

Getting diagnosed

Getting diagnosed

Initial symptoms

Initial Symptoms
  • No symptoms
  • Shortness of breath
  • Weight changes

Average age at diagnosis

Average Age at Diagnosis
2 Year(s) old
<1 48
Youngest AGE RANGE Oldest

Extensive testing

  • Blood testsBlood tests
  • Genetic TestingGenetic Testing
  • BiopsyBiopsy
  • Urine testsUrine tests
  • Newborn screening Newborn screening

Different types of tests

Different Types of Tests

Diagnosing specialty

  • Genetics
  • Metabolism
  • Emergency Medicine

Patients everywhere are eager to help find better treatments

Better Treatments

91% want to be contacted about trials

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