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Tay-Sachs Disease (LabFacets)

Source: www.labcorp.com
Topic: Tay-Sachs
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Sort Desciption: What is Tay-Sachs disease? Tay-Sachs disease (TSD) is a lysosomal storage disorder that causes pro ... Suggested Algorithm for Tay-Sachs Disease Testing ...

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Tay-Sachs Disease (LabFacets) What is Tay-Sachs disease? Tay-Sachs disease (TSD) is a lysosomal storage disorder that causes progressive neurological disease. Patients with TSD have low or absent activity of the enzyme beta-hexosaminidase A. 1 Infantile TSD, the most common form of TSD, presents in the first year of life with loss of developmental milestones and progresses inevitably to death, usually by five years of age. A less common adult onset form of TSD, which presents in adolescence or adulthood, also occurs. There is currently no effective treatment or cure for TSD. How is Tay-Sachs disease inherited? TSD is an autosomal recessive disorder. Both parents must be carriers of TSD in order to have affected children. When both parents are carriers, they have a 25% chance with each pregnancy to have an affected child. Who should be offered Tay-Sachs disease carrier testing? Carriers of TSD are not physically affected by being a carrier and usually do not have a history of the disease in their families. One in 300 individuals in the general population is a TSD carrier, 1 although one in 25 Ashkenazi (eastern European) Jewish individuals is a TSD carrier. 2 Other ethnic groups with high TSD carrier rates include non-Jewish French Canadians from eastern Quebec and Acadians (Cajuns). 1 Pseudodeficiency mutations, which cause the appearance of reduced enzyme activity but do not cause TSD, can occur in all ethnic groups. The American College of Obstetricians and Gynecologists ...

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