DEFINCIENCY OF ENZYME beta- hexosaminidase A CAN CAUSE TAY-SACHS DISEASE
DEFINITION: Tay-sachs disease is a rare genetic disorder found commonly in isolated genetic such as Jewish Population. This is also known as a fatal genetic lipid storage disorder in which harmful quantities of cell membrane components named ganglioside accumulate in the brain stem cells, eventually leading to the premature death of cells.
II. SYMPTOMS:
Diagnosis can be confirmed either by enzyme analysis or mutation analysis of the hexosaminnidase A gene.
In the several infantile forms of Tay-sachs disease which is the most common, there is less than 0.5% enzymatic activity. However, there are less several types of Tay-sachs disease with higher but still severely
DEFINITION: Tay-sachs disease is a rare genetic disorder found commonly in isolated genetic such as Jewish Population. This is also known as a fatal genetic lipid storage disorder in which harmful quantities of cell membrane components named ganglioside accumulate in the brain stem cells, eventually leading to the premature death of cells.
II. SYMPTOMS:
Diagnosis can be confirmed either by enzyme analysis or mutation analysis of the hexosaminnidase A gene.
In the several infantile forms of Tay-sachs disease which is the most common, there is less than 0.5% enzymatic activity. However, there are less several types of Tay-sachs disease with higher but still severely