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Fabry Disease

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MR. S.

on 4 April 2016

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Transcript of Fabry Disease

Are there prenatal test for Fabry?
Fabry is also Known as:
What is Fabry Disease?
What causes this disorder?What is affected?

It is caused by a mutation in the GLA gene. It is a gene that instruct cells to make the a-Gal A enzyme, located on the X-chromosome.

Fabry's Symptoms
pain burning sensations in hands and feet
Painful episodes especially after exercise, fever, fatigue, stress and change in weather.
spotted dark red skin (angiokeratomas)
characteristic change in cornea of eye which can cause cloudy vision
ringing in ear
hearing loss
decrease ability to sweat
problems with gas intestinal system
affects in kidney
heart damage

Few babies have the condition. Fabry usually shows in the beginning of childhood. They usually experience signs of kidney dysfunction (e.g., proteinuria), left ventricular hypertrophy, and stroke as of now, have been reported in children. A confirmatory test, and then follow-up testing will be needed as a child. A dietician and nutritionist can help with the child's diet which would likely need to continue through adulthood. The child's diet would be the most important outlook to reduce high risk of serious symptoms.
Alpha-galactosidase A deficiency
Anderson-Fabry disease
angiokeratoma corporis diffusum
angiokeratoma diffuse
ceramide trihexosidase deficiency
GLA deficiency
Fabry Disease is an inherited disorder of lipid metabolism. It is a rare disease that belongs to a group of diseases called Lysosomal Storage Disorders. This disease occurs when there is a shortage of enzyme production which are needed to break down certain substances. This results in a buildup of abnormal fatty substance called globotriaosylceramide in blood vessels and can be toxic and life-threatening.

This disease affects the X-chromosome and almost all organs.

By: Vivian Nguyen
What population is affected?
It is a rare pan ethnic, meaning that it occurs in all racial and ethnic population affecting males and females but males are most likely and more severe. It begins in childhood.

How is it inherited?

Fabry is an X-linked recessive pattern, a condition in which the mutated gene that causes the disorder is located on the X-chromosome

What kind of medical assistance will the affected child need? Will further assistance be needed, as the child grows older? What is the long term outlook for the child?
Are there any treatments or cures?
Could this disorder have been prevented?
Can this individual have children in the future? Will those children be affected?
What is the current status of research on fabry?
There are no permanent cures for Fabry but there are some treatments that can prevent serious symptoms. Enzyme replacement therapy can help in slowing progression.

No, since it is inherited.
* Since the genetic defect is located on the X-chromosome, it depends who the affected parent is to determine who it will be passed down in the family.
-Affected fathers pass the defective gene to all of their daughters and none to the sons.
-Affected mothers can pass the defective gene to both their daughters and their sons
Yes, individuals with this disorder could have children. There is a possible chance their children could have the disease and show symptoms or just be carriers.
There is research done on molecular diagnosis (s00n to be cure).

Scientist identified specific mutations within the gene that result in this disorder. They have also researched about cloning the gene for alpha-galactosidase A, the enzyme deficient in Fabry disease


"What Is Fabry Disease" Web. Mar.-Apr. 2016.

"Fabry Disease." NORD, 2015. Web. Mar.-Apr. 2016. <http://rarediseases.org/rare-diseases/fabry-disease/>.

"Fabry Disease." n.p. Mar.-Apr. 2016. Web. Mar.-Apr. 2016. <https://ghr.nlm.nih.gov/condition/fabry-disease>.

"Fabry." Baby's First Test, 2015. Web. Mar.-Apr. 2016. <http://www.babysfirsttest.org/newborn-screening/conditions/fabry>.

"Genetics and Fabry Disease." Genzyme Corporation, 2010-2016. Web. Mar.-Apr. 2016. <https://www.fabrycommunity.com/en/Patients/Education/genetics.aspx>.


"International Center for Fabry Disease Current Research - Icahn School of Medicine at Mount Sinai." Icahn School of Medicine at Mount Sinai. Icahn School of Medicine at Mount Sinai, 2016. Web. 02 Apr. 2016.

1 in 40,000 to 60,000 males
Occurs in females but prevalence is unknown.
Full transcript