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Fabry disease

From SNPedia

Fabry disease is a rare enzyme deficiency known as a lysosomal storage disease. Wikipedia The enzyme involved, alpha galactosidase A, is coded by the GLA gene. OMIM Although Fabry disease has been considered an X-linked recessive condition, female carriers of a single mutated GLA gene may have significant symptoms.

Enzyme replacement therapy is helpful, although it is currently extremely expensive, and production problems have led to shortages of the drug. [1]