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Fabry disease

Fab-RAY • disease

General Condition Information

Other Names

  • Fabry

Condition Type

Birth Prevalence

  • It is estimated that more than 30 babies are born with this rare condition each year in the United States.
  • Fabry disease is more common and more severe in boys.
  • Visit GeneReviews to learn more about how often this condition occurs.

Screening Finding

Decreased alpha-galactosidase A (alpha-Gal A) enzyme activity

What is Fabry disease

Fabry disease is an inherited (genetic) condition that prevents the body from processing glycosphingolipids properly. Fabry disease is named for one of the first doctors to describe the condition.

Glycosphingolipids help maintain the shape of cells and support other important cell processes. The enzyme alpha-galactosidase A (alpha-Gal A) breaks down glycosphingolipids in lysosomes, the recycling compartments in your cells.

Fabry disease develops when alpha-Gal A is present at low levels or does not work correctly. Build-up of glycosphingolipids affects the function of the body’s organs.

There is more than one type of Fabry disease:

  • Classic Fabry disease
  • Atypical or variant types of Fabry disease, with later onset and fewer symptoms.

These types differ in signs and symptoms and age of onset. The severity of the type your baby has depends on how well their body can break down glycosphingolipids.

Without treatment, high levels of glycosphingolipids can damage the kidneys, heart, eyes, and nerves. This damage leads to the signs and symptoms of the condition.

Newborn Screening and Follow-Up

Condition Details

Treatment and Management

It is important to talk to your health care provider about which treatment(s) are best for your baby. The goal of treatment is to prevent the health problems caused by this condition.

Treatment for Fabry disease does not typically begin in infancy, but babies should be monitored regularly so treatment can begin as soon as it is necessary. If family members are also found to have Fabry disease, those family members may need to be treated right away.

Treatments may include the following:

Children who receive early and ongoing treatment for Fabry disease can live longer and have better health.

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