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Fabry’s disease

An unusual hereditary disorder caused by a lack of alpha-galactosidase A, an enzyme (a protein that acts as a catalyst) necessary for the metabolism of particular lipids (fats) in the body. Without the enzyme, lipid molecules build up in the tissues, particularly in the kidneys, heart and nerves.

Fabry’s disease is inherited as an X linked recessive trait and therefore affects males more often than females.

Symptoms

Among the initial symptoms to appear, often in childhood, are discomfort and pain in the feet and hands as a result of damage to the peripheral nerves. As the condition progresses, kidney and heart function can become impaired. Female carriers often show only mild symptoms.

Treatment and outlook

Feet and hand pain is treated with carbamazepine. Sufferers usually survive into adulthood but are at risk from strokes, kidney damage and heart attacks.


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