Fabry disease is caused by a mutation in the DNA sequence of the GLA gene. A person who inherits this mutation does not have enough of a functioning enzyme known as alpha …

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 …

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). This enzyme breaks down …

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 …

Oct 14, 2024 · Learn more about Fabry disease, including its symptoms, what causes it, and how it's treated.

Aug 7, 2025 · Fabry disease is an inherited disorder, which means it is passed from parents to children. It happens when the gene that controls the body's ability to make the enzyme, alpha …

Fabry disease is an inherited disorder that results from the buildup of a type of fat, called globotriaosylceramide, in the body's cells. Beginning in childhood, this buildup causes signs …

What is Fabry disease? Fabry disease results from abnormal deposits of a particular fatty substance (called globotriaosylcera-mide) in blood vessel walls throughout the body.

Sep 11, 2025 · Fabry disease is a rare genetic disorder caused by defects in an enzyme that normally digests certain fat-soluble compounds within the body’s cells. These compounds pile …

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 …