Synonyms of Fabry Disease

  • alpha-galactosidase A deficiency.
  • Anderson-Fabry disease.
  • angiokeratoma corporis diffusum.
  • angiokeratoma diffuse.
  • GLA deficiency.

What are the signs and symptoms of Fabry disease?

Fabry disease symptoms include:

  • Numbness, tingling, burning or pain in the hands or feet.
  • Extreme pain during physical activity.
  • Heat or cold intolerance.
  • Abnormal opacity of the eye (cornea), which does not change someone’s vision.
  • Dizziness.
  • Flu-like symptoms, including fatigue, fever and body aches.

What is alpha-galactosidase deficiency?

Fabry disease is a rare genetic disease a deficiency of the enzyme alpha-galactosidase A (a-Gal A) that causes a buildup of a type of fat called globotriaosylceramide (Gb3, or GL-3) in the body. Fabry disease is classified as a type of lysosomal storage disorder.

Is alpha gal syndrome the same as Fabry disease?

Fabry disease is a rare genetic disorder caused by a deficiency of the enzyme alpha-galactosidase A – also known as alpha-GAL.

When is Fabry disease diagnosed?

A Fabry disease diagnosis is often delayed. The time to diagnosis of Fabry disease takes an average of 15 years from when symptoms first appear. Individuals may experience many years of suffering and frustration while potentially receiving unnecessary medical treatments due to misdiagnoses.

What organelle does Fabry disease affect?

The enzyme associated with Fabry’s disease is called Alpha-Galactosidase A, which is located inside an intracellular organelle known as the lysosome. As a result of the enzyme deficiency, lipids are not removed from the blood and build up in the body, leading to multiple organ dysfunction.

What doctors treat Fabry?

Cardiologist. A cardiologist diagnoses and treats heart problems from Fabry disease. This doctor will do regular checks of your heart and treat problems like: Abnormal heart rhythm (arrhythmia)

What is Globotriaosylceramide?

Globotriaosylceramide is a globoside. It is also known as CD77, Gb3, GL3, and ceramide trihexoside. It is one of the few clusters of differentiation that is not a protein. It is formed by the alpha linkage of galactose to lactosylceramide catalyzed by A4GALT.

Can alpha-gal cause kidney problems?

When alpha GAL is missing or present in low amounts, fat builds up in cells of the blood vessels and tissues of the kidneys, heart, skin and brain. Over time, this can lead to life-threatening problems including kidney failure, heart attacks and strokes.

How is Fabry diagnosed?

A GLA gene test is performed to diagnose Fabry disease. Males with Fabry disease can usually be diagnosed via an enzyme assay test. Males with classic Fabry disease essentially have no alpha-galactosidase A enzyme (less than 1% of normal).