Tay Sachs Disease Case Study

1) Tay Sachs disease is one of many lysosomal storage diseases, this is caused by the lysosomes inability to produce certain enzymes needed to breakdown macromolecules. In Tay Sachs, the lysosome is unable to produce the enzyme beta-hexosaminidase A, which breaks down gangliosides within brain cells. Tay Sachs predominantly affects infants, and unfortunately there is no cure, symptoms include seizures, deafness, progressive blindness, and muscle stiffness. Gaucher disease is caused by the inability of the cell to produce the enzyme beta-glucocerebrosidase, which breaks down glucocerebrosides into glucose and simple fats. Gauchers disease comes in three types, with type two being the most lethal. Affected individuals of Gaucher disease vary from infancy to later in life depending on disease type with symptoms consisting of liver and spleen enlargement, bone abnormalities and anemia. Niemann-Pick
Tay Sachs is a rare disorder, with fewer than 20,000 cases in the united stated per year and typically found in people with Eastern European Jewish ancestry. Tay Sachs disease typically affects infants at ages of 3 to 6 months, although vary rare forms have been found to affect individuals throughout life (4). Unfortunately, no cure for this disease has been found, but gene therapy and enzyme replacement may help slow the process. Symptoms of Tay Sachs disease start to become visible when the child development slows and its motor muscles begin to weaken. Along with muscle weakness, infected infants show an increased startle reaction to loud noises. Probably the most obvious sign of Tay Sachs disease is a cherry red spot within the eye around the fovea. Later on in life, infected individuals can experience both vison and hearing loss, seizures, paralysis, and most likely