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Discusses Tay-Sachs disease, a genetic disorder in which little or no hex A enzyme is produced by the body. Discusses screening. Covers symptoms to watch for in babies and young children. Covers late-onset Tay-Sachs disease.
The test for Tay-Sachs disease measures the amount of an enzyme called hexosaminidase A (hex A) in the blood. Hex A breaks down fatty substances in the brain and nerves. Tay-Sachs is an inherited disease in which the body can't break down fatty substances as it should, so the fatty substances collect in the nerve cells...