Sachs Tay Cholesterol and Other Fats Nutrition and Metabolism Disorders

Sachs Tay Cholesterol and Other Fats Nutrition and Metabolism Disorders

Tay-Sachs disease is a fatal genetic disorder in which harmful quantities of a fatty substance called ganglioside GM2 accumulate in the nerve cells in the brain. The condition is caused by insufficient activity of an enzyme called hexosaminidase A that catalyzes the biodegradation of acidic fatty materials known as gangliosides. Gangliosides are made and biodegraded rapidly in early life as the brain develops. Patients and carriers of Tay-Sachs disease can be identified by a simple blood test that measures hexosaminidase A activity. Both parents must be carriers in order to have an affected child. When both parents are found to carry a genetic mutation in hexosaminidase A, there is a 25 percent chance with each pregnancy that the child will be affected with Tay-Sachs disease. Prenatal monitoring of pregnancies is available if desired.

Top: Health: Conditions and Diseases: Nutrition and Metabolism Disorders: Cholesterol and Other Fats: Tay-Sachs

See Also:

National Tay-Sachs and Allied Diseases Association - An organization offering support and programs geared to families affected by Tay-Sachs Disease and over 40 other fatal degenerative genetic disorders.
Tay-Sachs Disease - Information sheet on this disease addressing what it is, treatment and prognosis.

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