fabry disease

Fabry disease, also called Anderson-Fabry disease, is a HEREDITARY CONDITION caused by mutations in the GLA GENE. The condition reduces or eliminates the activity of the ENZYME alpha-galactosidase A, which normally helps break down a fatty substance called GLOBOTRIAOSYLCERAMIDE. Without enough functional enzyme, globotriaosylceramide accumulates inside LYSOSOMES of CELLS, causing progressive damage to tissues and organs. Fabry disease can affect many parts of the body, including the KIDNEYS, HEART, SKIN, EYES, and NERVOUS SYSTEM. Symptoms may include episodes of burning pain in the hands and feet, reduced ability to sweat, characteristic skin lesions called angiokeratomas, kidney problems, HEART DISEASE, and increased risk of STROKE. Fabry disease is an X-linked genetic disorder, meaning the altered gene is located on the X CHROMOSOME.

• Rare inherited metabolic disorder • Caused by alpha-galactosidase A enzyme deficiency • Leads to buildup of fatty substances inside cells • Can affect kidneys, heart, skin, eyes, and nerves • Caused by changes in the GLA gene • Part of a group of lysosomal storage disorders