Tay Sachs Disease:Mnemonic

Tay Sachs Disease:

Tay Sachs Disease develope Duero deficiency of the enzyme Hexosaminidase A.T enzyme is primaryly involved in degradation of GM2 gangliosides. Due to deficiency of this enzyme there is  deposition of GM2 gangliosides in central nervous system (CNS) or retina.This condition is more common in Ashkenazi Jews.

These patients are usually asymptomatic at birth. After 6 months mental deterioration and motor incoordination gradually developed and by the age of 2/3 yrs the normally die.

The features of this disease can be remembered by the following mnemonic:

TAY SACHS

T- Tay Sachs Disease

A- Autosomal Recessive

Y- Young death

S- Spot in macula

A- Ashkenazi Jews

C- Cytoplasmic vacuolations

H- Hexosaminidase A deficiency

A- Storage disease

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