Fabry disease is a rare genetic condition in which you don’t produce enough healthy versions of an enzyme called alpha-galactosidase A (alpha-GAL). Learn about the symptoms and causes of Fabry disease, a rare genetic lysosomal storage disorder.

Fabry disease, also known as Anderson–Fabry disease, is a rare genetic disease that can affect many parts of the body, including the kidneys, heart, brain, and skin. [1] Fabry disease is one of a group of conditions known as lysosomal storage diseases.

Jun 6, 2019 · Fabry disease is a rare inherited disorder of glycosphingolipid (fat) metabolism resulting from the absent or markedly deficient activity of the lysosomal enzyme, α-galactosidase A (α-Gal A). This disorder belongs to a group of diseases known as lysosomal storage disorders.

Aug 5, 2002 · Fabry disease is the most common of the lysosomal storage disorders and results from deficient activity of the enzyme alpha-galactosidase A (α-Gal A), leading to progressive lysosomal deposition of globotriaosylceramide and its derivatives in cells throughout the body.

Oct 14, 2024 · Fabry disease (FD) is a rare inherited disease. It’s progressive and can be life threatening. FD is the result of a damaged gene that leads to a shortage of an essential enzyme.

Jun 4, 2019 · Fabry disease causes clusters of angiokeratomas (small, dark red spots on the skin) and many systemic symptoms due to the deposition of globotriaosylceramide (Gb3) in multiple organs. Who gets Fabry disease? The estimated prevalence in males is about one in 40,000–60,000 of the population [2].

Fabry disease is a rare genetic disorder caused by a defective gene (the GLA gene) in the body. In most cases, the defect in the gene causes a deficient quantity of the enzyme alpha-galactosidase A.

Fabry disease is caused by genetic mutations, also known as pathogenic variants. Genetic mutations can be hereditary, when parents pass them down to their children, or they may occur randomly when cells are dividing.

Apr 24, 2025 · Fabry disease is a genetic (inherited) condition caused by a mutation, or change, in your GLA gene. This mutation prevents your body from producing normal amounts of the alpha-gal enzyme, which breaks down a type of fat called globotriaosylceramide.

Apr 18, 2025 · Fabry disease is a rare genetic disorder that means your body does not make enough of an enzyme (which are proteins that speed up the chemical reactions in our bodies) called alpha-galactosidase A (alpha-GAL). Alpha-GAL normally helps break down and remove a fatty substance found in your cells (called globotriaosylceramide or GL-3). ...