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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.
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 .
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 .