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Tay-Sachs, Canavan, Sandhoff, GM1 and related diseases

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A “pseudodeficiency allele” reduces enzyme activity but does not cause a disease. A pseudodeficiency allele does not cause Tay-Sachs disease in a carrier or in the children who inherit the pseudodeficiency allele. Even if a person has one Tay-Sachs mutation and one pseudodeficiency allele, they will not develop Tay-Sachs disease. Approximately 30% of non-Ashkenazi Jewish and 3% of Ashkenazi Jewish individuals who are identified as carriers by enzyme analysis have a benign pseudodeficiency allele.

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