Fabry Disease

Fabry Disease is a rare inherited lysosomal storage disorder caused by deficiency of the enzyme alpha-galactosidase A. This enzyme is responsible for breaking down a fatty substance called globotriaosylceramide (Gb3 or GL-3). When the enzyme is deficient, Gb3 accumulates in cells throughout the body, particularly in blood vessel walls, leading to progressive organ damage.

The disease follows an X-linked inheritance pattern, meaning males are typically more severely affected than females. However, females can also experience significant symptoms and should not be considered merely "carriers." The classic form presents in childhood with episodes of severe pain in the hands and feet (acroparesthesias), reduced sweating, and distinctive skin lesions called angiokeratomas.

As the disease progresses, it affects multiple organ systems. Kidney damage leads to progressive renal failure, often requiring dialysis or transplant. Heart involvement includes thickening of the heart walls (cardiomyopathy), arrhythmias, and valve abnormalities. Stroke can occur due to accumulation in blood vessels of the brain. Many patients also experience gastrointestinal symptoms, hearing loss, and corneal changes.

Fabry disease is caused by mutations in the GLA gene. Enzyme replacement therapy (ERT) and newer chaperone therapies can help manage the condition, particularly when started early. The condition is included in the ACMG list of genes recommended for reporting due to its treatability.

NutraHacker examines the following gene related to Fabry Disease:

• GLA

For more information about your own genetic profile as related to Fabry Disease, please check out our NutraHacker WGS Critical Genetics Report.

Or to get going without any further delay, upload WGS raw DNA data and find out more about your critical genetics profile today.