Question: What Enzyme Causes Tay Sachs Disease?

Is there any research being done on Tay Sachs?

To date, there is no cure or effective treatment for Tay-Sachs disease.

However, there is active research being done in many investigative laboratories in the U.S.

and around the world exploring a range of therapeutic approaches..

What is the life expectancy of a child with Tay Sachs?

Children with Tay-Sachs rarely live beyond 4 years of age. In late-onset Tay-Sachs (LOTS), early symptoms such as clumsiness or mood changes may be minor or seem “normal” and go unnoticed.

What causes Tay Sachs disease?

Tay-Sachs disease is a rare disorder passed from parents to child. It’s caused by the absence of an enzyme that helps break down fatty substances. These fatty substances, called gangliosides, build up to toxic levels in the child’s brain and affect the function of the nerve cells.

Who is most likely to get Tay Sachs disease?

Tay-Sachs disease is most common in Ashkenazi Jews. About one in 30 people with this ancestry carry a copy of the gene. Some non-Jewish groups also have a higher chance of carrying the disease. They include people whose ancestors were French-Canadian, from the Louisiana bayou, or from Amish populations in Pennsylvania.

What is the life expectancy for someone with Tay Sachs?

The condition is usually fatal by around 3 to 5 years of age, often due to complications of a lung infection (pneumonia). Rarer types of Tay-Sachs disease start later in childhood (juvenile Tay-Sachs disease) or early adulthood (late-onset Tay-Sachs disease). The late-onset type doesn’t always shorten life expectancy.

What part of the body does Tay Sachs affect?

Tay-Sachs disease affects the nerve cells in the brain and spinal cord. Babies with Tay-Sachs lack a particular enzyme, which is a protein that triggers chemical reactions in cells. The lack of the enzyme, hexosaminidase A, causes a fatty substance to collect.

How many babies are born with Tay Sachs disease?

About one out of every 2,500 to 3,600 babies born to Ashkenazi Jewish couples have the disease. In the general population about one out of every 320,000 babies born has Tay-Sachs disease. Approximately one in 30 Ashkenazi Jews is a carrier of the gene that causes the disease.

How does a child get Tay Sachs?

Tay-Sachs can occur when parents pass on a changed gene to their child. If a baby gets the changed gene from both parents, he or she will get the disease. If the baby gets the changed gene from only one parent, he or she will be a carrier.

What enzyme is involved in Tay Sachs disease?

Tay-Sachs disease is a rare, neurodegenerative disorder in which deficiency of an enzyme (hexosaminidase A) results in excessive accumulation of certain fats (lipids) known as gangliosides in the brain and nerve cells.

How was Tay Sachs disease discovered?

In 1881 British ophthalmologist Warren Tay made an unusual observation. He reported a cherry-red spot on the retina of a one-year-old patient, a patient who was also showing signs of progressive degeneration of the central nervous system as manifested in the child’s physical and mental retardation.

What happens if you have Tay Sachs?

Decreased eye contact, blindness. Decreased muscle tone (loss of muscle strength), loss of motor skills, paralysis. Slow growth and delayed mental and social skills. Dementia (loss of brain function)

Can Tay Sachs be detected before birth?

Tay-Sachs can be detected before birth, so couples who are thinking of having children may want to get a blood test to find out whether their child would be likely to have it.

Is there a cure coming soon for Tay Sachs disease?

There is no cure for Tay-Sachs disease, but some treatments can help in managing symptoms. The goal of treatment is support and comfort. Supportive treatments include: Medication.