Tay-Sachs disease or also known as acute infantile variant (Kaback & Desnick, 2011) is a heritable disorder that mainly affects infants, adolescents and even adults. This basically targets the nervous system of the human body.
It is caused by the absence of hexosaminidase-A (Hex-A), a vital enzyme found in the brain cells that functions in metabolizing certain lipids (Campbell, Reece, Urry, Cain, Wasserman, Minorsky & Jackson, 2015). Without the presence of these enzymes, the lipid (GM2 ganglioside) accumulates abnormally in cells, specifically in the nerve cells. After which, the on-going accumulation causes more damage to the brain.
The inheritable disorder commonly starts at early fetal development or during early stages of pregnancy. After child birth and up to the point where the child reaches the age of three to six months, he or she ‘appears’ to be normal. But as soon as the child turns two years older, symptoms of the disease is apparent wherein recurrent seizures and diminishing mental function usually takes place. The child will also be having a hard time crawling, turning over, sitting and even reaching out (U.S.
National Library of Medicine, 2018). In the worst case scenario, it may lead to blindness, cognitive impairment, paralysis and non-responsiveness. And as soon as the child turns three or four years older, the nervous system becomes badly affected, eventually leading to death. On the other hand, adults are also susceptible to this kind of disease merely categorized as the Late-Onset Tay-Sachs disease causing intellectual and neurological impairment (National Human Genome Research Institute, 2011). Because of the aforementioned effects of the said disorder and its progressive obliterations towards the nervous system of the human body, the researcher wrote this study to make the respective readers become aware of this rare and inherited disorder and to let them understand the nature, the causes, the overall symptoms, the effective management and preventive measures in order to preclude the possible occurrence of this disease.
