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? Fabry disease is a rare, inherited disorder caused by a mutation in the GLA gene. It is a lysosomal storage disorder and is characterized by the accumulation of a particular kind of fat (called globotriaosylceramide) in the body's cells. Symptoms of Fabry disease may include pain and burning sensations in the hands and feet, fatigue, decreased sweat production, and abnormal appearance of the skin, eyes, and hair. It can also lead to a variety of cardiac and renal complications. Treatment options include enzyme replacement therapy and changes to lifestyle and diet.
Dec. 31, 2022, 6:30 p.m.
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