Tay-Sachs disease

Tay-Sachs Pictures

DEFINITION

Tay-Sachs disease is really a genetic defect during which accumulation of gangliosida (a direct result of fat metabolism) in the network.

CAUSE

The disease occurs mostly in families originating from Eastern European Jews.

This disease is an kind of lipid balance fatal disorder, that's associated with a genetic defect, where an interruption in the beta-hexosaminidase enzyme that catalyzes the biodegradation of fat, such as gangliosida.

Tay Sachs disease is a genetic abnormality that is autosomal recessive. If single parents are carriers with the abnormal gene, then we have a risk of 25% to acquire a child with Tay-Sachs disease in each pregnancy. Affected children get abnormal gene from both mom and dad. If only one parent who degrade the abnormal gene with their children, they'll likely are career (carrier). The child has not been hurt, but it really has the possibility to slow up the disease to her child at a later date.

SYMPTOMS

In a very early age, youngsters with this disease are experiencing:

- Mental retardation (mental retardation)

- Paralysis (paralise)

- Dementia (dementia)

- blind

- Cherry-red spots for the retina.

These children will menginggal when he was 3-4 years.

Diagnosis

Before conception, parents can find out if they carry genes that may make the disease. While being pregnant, Tay-Sachs disease can be identified inside fetus by chorionic villi melekukan examination or amniocentesis (waters examination).

TREATMENT

This disease can't be treated or cured.

Tay-Sachs Symptoms, Tay-Sachs Syndrome