Fabry Disease

Fabry Disease

Introduction

Fabry disease is a type of lysosomal storage disease. Lysosomes are round structures found in the cells of the body that are full of special proteins called enzymes. Lysosomal enzymes help breakdown other proteins, carbohydrates, fats, and other substances. In Fabry disease, there is not enough of the enzyme alpha-galactosidase.

Symptoms

Symptoms usually begin during childhood or adolescence and may include: burning sensations in the arms and legs that gets worse with exercise and hot weather, small, non-cancerous, raised reddish-purple blemishes on the skin, clouding in the corneas, impaired blood circulation and increased risk of heart attack or stroke, enlarged heart, kidneys may become progressively impaired, leading to renal failure, and decreased sweating, fever, and gastrointestinal difficulties.

Causes

Fabry Disease is caused by mutations in GAL3 gene.

Prevalence

1:17’000 to 1:117’000

Additional Information

https://www.kidney.org.uk/fabry-disease

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Last Updated on 17 May 2021