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-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 …

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 and …

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 GAL, is abnormal.

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 up in …

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 sphingolipids, a fat …

Apr 24, 2025 · Fabry disease is a rare, progressive genetic disorder that happens when a fatty substance called globotriaosylceramide builds up in your cells. This condition can cause a range of …

Fabry's disease is a rare condition that affects the body's ability to break down and use a fat called globotriaosylceramide, causing it to build up in the tissues of the body.