Tay-Sachs Disease is inherited in an autosomal recessive modality. This means two copies of the abnormal gene must be present in order for the disease to develop.
Hexosaminidase A (also known as beta hexosaminidase A or HEXA) is an enzyme which is severely deficient in Tay-Sachs. This enzyme is responsible for breaking down GM2 ganglioside.
This is the specific type of ganglioside that accumulates in Tay-Sachs.
There is increased disease prevalence in the Eastern European Ashkenazi Jewish population.
On fundoscopic examination, a small red spot is seen in the center of the macula of the retina. It is caused by accumulation of GM2 ganglioside in the retina and the relative transparency of the macula. This is seen in several different lipid storage diseases.
Progressive deterioration of the central nervous system due to accumulation of GM2 ganglioside.
Progressive deterioration of mental and physical abilities is seen at around 6 months of age due to harmful quantities of gangliosides that accumulate in the brain's nerve cells, leading to premature cell death.
On histologic exam, neurons are ballooned with cytoplasmic vacuoles that constitute a markedly distended lysosome filled with gangliosides. On electron microscope, several cytoplasmic inclusions make the appearance of an onion skin.
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