Dictionary of Human Evolution and Biology

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Gaucher Disease

Heritable lysosomal storage disease with variable symptoms: pain, fatigue, enlarged liver and spleen, nervous system impairment, bone degeneration with fractures, arthritis, skin pigmentation defects; fatal if untreated. Of several modes, type I (GDI) is caused by defective glucocerebrosidase, produced by an autosomal recessive gene that maps to 1q21. Substitutional gene therapy has been available since 1991; the working enzyme is injected intravenously every two weeks, similar to insulin therapy in diabetes. Found in high frequency among Ashkenazi Jews (1: 400). The incidence in the general population is 1: 100 000.

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