Fabry Disease

What is Fabry disease?

Fabry disease is caused by the body not having enough of a specific enzyme called alpha-galactosidase A. Without normal levels of this enzyme, certain fats build up in the cells of the body, particularly in the skin, liver, heart and nervous system. This fat buildup can cause physical conditions such as small red spots on the skin, hearing loss, pain in the hands and feet, as well as eye, heart, kidney and blood vessel damage. The symptoms of Fabry disease can start as early as childhood or later on as an adult.

How common is Fabry disease?

About 1 in 3,500 babies is born with Fabry disease in the United States each year. More males are affected by Fabry disease, but females can be affected as well.

What can be done for Fabry disease?

People with Fabry disease can be given a form of treatment that replaces the missing alpha-galactosidase A enzyme - this is called enzyme replacement therapy (ERT). While this therapy is not a cure for Fabry disease, it can make some of the symptoms less severe, helping people with the condition gain a better quality of life.

How is Fabry disease inherited?

Fabry disease is caused by changes in the GLA gene. The GLA gene is located on the X chromosome, so Fabry disease is called an X-linked inherited condition. Males have one copy of the X chromosome while females have two. For males, a change in the GLA gene on their only X chromosome can cause Fabry disease. For females, an alteration in the GLA gene on one X chromosome but a functioning copy on the other X chromosome can lead to a less severe form of Fabry disease. This also means that the female is a carrier, and can pass on the X-chromosome with the altered GLA gene to her children.

References

https://ghr.nlm.nih.gov/condition/fabry-disease#
https://www.ncbi.nlm.nih.gov/books/NBK1292/

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