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The toxic globules of sugar and fat slowly pile up in the body s cells, accumulating in blood vessels and in major organs like the kidney and heart.
Typically, special-purpose proteins within the cell would tear apart and break down the toxins. But for people with Fabry, a rare inherited disease, genetic mutations result in garbled, sometimes missing, instructions for constructing the right proteins.
Without the right disposal tools, cells are helpless to the inexorable buildup of the dangerous molecules. The first warning signs are as varied as they are acute: burning sensations of pain in the hands and feet, abnormally low sweat production and dark skin rashes. Over time, for those most severely affected, symptoms can become dire, leading to organ dysfunction and early death.