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Tay-Sachs Disease and Sandhoff Disease

By

Matt Demczko

, MD, Sidney Kimmel Medical College of Thomas Jefferson University

Last full review/revision Apr 2020| Content last modified Apr 2020
Click here for the Professional Version
  • Tay-Sachs disease and Sandhoff disease occur when the body lacks enzymes needed to break down gangliosides.

  • Symptoms include intellectual disability and blindness.

  • The diagnosis may be made by prenatal screening tests.

  • These diseases cause premature death.

  • These diseases cannot be treated or cured.

Sphingolipidoses occur when people do not have the enzymes needed to break down (metabolize) sphingolipids, which are compounds that protect the cell surface and serve certain functions in the cells. There are many other types of sphingolipidoses:

In Tay-Sachs disease and Sandhoff disease, gangliosides, which are products of fat metabolism, accumulate in brain tissue. Gangliosides build up in affected children because the enzyme needed to break down gangliosides, called hexosaminidase A, is not working correctly.

Tay-Sachs disease

This disease is most common among families of Eastern European (Ashkenazi) Jewish origin.

Before conception, parents can find out whether they are carriers of the gene that causes the disease. Carriers Carrier Screening Genetic screening is used to determine whether a couple is at increased risk of having a baby with a hereditary genetic disorder. Hereditary genetic disorders are disorders of chromosomes or... read more are people who have an abnormal gene for a disorder but who do not have symptoms or visible evidence of the disorder. People who carry the gene should receive genetic counseling because there is a risk they will pass the disorder on to their children. The disease develops when both parents are carriers.

The disease cannot be treated or cured.

Sandhoff disease

This disease is very similar to Tay-Sachs disease. However, unlike Tay-Sachs disease, Sandhoff disease is not associated with any specific ethnicities.

Beginning at 6 months of age, children become progressively intellectually disabled and blindness develops. Sounds may seem abnormally loud (a condition called hyperacusis). Children also have an enlarged liver and bone problems.

Diagnosis of Sandhoff disease is the same as for Tay-Sachs disease.

The disease cannot be treated or cured.

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