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  Taysach’s Disease

Taysach’s Disease:

Gangliosides are glycosphingolipids that are available in small amounts in the membranes of a broad variety of tissues. Nervous tissues are specifically rich in gangliosides. Usually, the carbohydrate segments of glycolipids are removed via lysosomal hydrolases in the early phases of the turnover of these compounds. Various inborn errors because of the deficiency of these hydrolases have been well documented.

From sphingosine Gangliosides are synthesized as follows:

639_taysachs disease.jpg


Cause:

Taysach’s disease is because of the nonexistence of N-acetyl hexosaminidase A that directs to the accumulation GM2 in brain and spleen. Therefore the ganglioside GM2 is known as Taysach’s ganglioside.

In this type of condition GM2 is not degraded to GM2 and accumulates in larger amounts in lysosomes, specifically in the brain cells. The amount occasionally goes beyond 100 - 300 times the normal content causing degeneration of the nervous system.

Symptoms:

Muscle weakness, retardation in development and complexity in eating are general early symptoms.

Blindness and mental retardation are the characteristic symptoms in this rare genetic disorder. Death between 2-5 years is not avoidable. Above 90 % of the patients comprises a characteristic cherry red spot in the retina.

Taysach’s disease can be diagnosed through taking amniotic fluid from the mother and assaying the hexosaminidase A activity.

 

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