Fabry Disease

By Betsy Pavon-Arriola

What is Fabry Disease?

Fabry disease, is a rare genetic lysosomal storage disease, inherited in an X-linked manner

What causes Fabry DIsease?

Fabry disease is a rare, inherited disease caused by the deficiency of an enzyme called alpha-galactosidase

Which gene or chromosome is affected by this disorder ?

Fabry Disease is an x-linked disorder, meaning that it is found on the x chromosome.

Are there prenatal test for the disorder ?

yes there are and also your family

What are symptoms ?

Symptoms that have been associated with Fabry disorder include chronic fatigue, dizziness, headache, weakness, and vomiting.

What population is affected?

Anyone around the world can get this disease.

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How is it inherited ?

The defect gene is on an x chromosome, which is now one of the chromosomes that detriment an individual. Males have one x from their mothers and one y from their fathers .

What kind of medical assistance will the affected child need ,will further assistance be needed when the child grows up ?

When your baby has the disorder your just gonna have to eat heathy

Are there any treatment or cures ?

There are no cures but there are treatments available.

Possible Treatments:

  • Enzyme replacement
  • Medications for individual symptoms

Could this disorder be prevented ?

It can be prevented however early diagnosis and treatment enzyme replacement therapy an be helping slowly or stop progressing .

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Can individual have children in the future?

I think they could and I really don't know if it will affect their kids in the future

What is the current status of research of this disorder, is there a cure coming soon?

im not really sure about that and no .