GM2-gangliosidosis

Description Tay-Sachs disease, (also known as GM2 gangliosidosis or hexosaminidase A deficiency), is a fatal autosomal recessive genetic disorder caused by insufficient activity of the enzyme beta-hexosaminidase A. It is very rare, found more prevalently among certain populations, like those with Eastern European, (Ashkenazi Jewish) heritage (Bethesda, 2014), and usually results in death by the age of four. The purpose of this essay is to illustrate the pathology and inheritance patterns of this

The oxidative stress can cause cell damage, resulting in inflammation, which has also been found to be a major contributor to disease progression of GM2 gangliosidosis [17]. In this study, we identified elevation in glutathione pathways, which plays a pivotal role in responses to oxidative stress. Another evidence of inflammation is reduced levels of arachidonic acid, an omega-6 fatty acid, in brain samples

Ethical Dilemma D.B. was born May 30, 1999, with a condition most commonly known throughout the Eastern European Jewish community. Tay-Sachs disease is a condition caused by a lack of hexosaminidase A (Hex A) enzyme in the brain used to breakdown gangliosidosis (GM2) enzymes or the brain begins to swell,