Taysach’s Disease: Causes, Symptoms

 Taysach’s Disease 

Gangliosides are glycosphingolipids which are present in small amounts in the membranes of a wide variety of tissues. Nervous tissues are particularly rich in gangliosides. Generally, the carbohydrate segments of glycolipids are removed by lysosomal hydrolases in the early phases of the turn over of these compounds. Several inborn errors due to the deficiency of these hydrolases have been well documented.


 

Cause

 

Taysach’s disease is due to the absence of N-acetyl hexosaminidase A that leads to the accumulation GM2 in brain and spleen. Hence the ganglioside GM2 is called as Taysach’s ganglioside.

 

In this condition GM2 is not degraded to GM1 and accumulates in large amounts in lysosomes, particularly in the brain cells. The amount sometimes exceeds 100 - 300 times the normal content causing degeneration of the nervous system.

 

Symptoms

 

Muscle weakness, retardation in development and difficulty in eating are typical early symptoms. Mental retardation and blindness are the characteristic symptoms in this rare genetic disorder. Death between 2 -5 years is unavoidable. More than 90 % of the patients have a characteristic cherry red spot in the retina.

 

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

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