Tay-Sachs is a devastating disease affecting lysosomal storage. According to McCance & Huether (2014)‚ it is due to a deficiency in the lysosomal enzyme hexosaminidates A (HexA) that’s function is to degrade GM2 gangliosides (fatty acids) in nerve cells. Those diagnosed with Tay-Sachs do not have the ability to degrade this fatty acid and as a result‚ it builds up in the body causing nerve cell toxicity. It is genetically inherited through an autosomal recessive pattern meaning that both parents
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Tay-Sachs is a rare genetic disorder that slowly destroys nerve cells in the brain and spinal cord and this disease effects millions of people (Tay-Sachs GHR). Tay-Sachs can’t be spread as it’s a genetic disorder. It is caused by a genetic mutation in the HEXA genes (Tay-Sachs GHR). People who have Tay-Sachs have problems with the enzyme called beta hexosamidase A and this enzyme is supposed to clean up the buildup of the molecule called GM2 ganglioside within cells but if it doesn’t it leads to
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What is Tay-Sachs Disease? Tay-Sachs disease is a fatal genetic lipid storage disorder in which harmful quantities of a fatty substance called ganglioside GM2 build up in tissues and nerve cells in the brain. The condition is caused by insufficient activity of an enzyme called beta-hexosaminidase A that catalyzes the biodegradation of acidic fatty materials known as gangliosides. Gangliosides are made and biodegraded rapidly in early life as the brain develops. Infants with Tay-Sachs disease
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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
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being born with different genetic conditions. Personally‚ I believe this test proves to be highly beneficial because it educates couples who plan to have a family on whether or not there are genetic risks that could ultimately have a negative effect on their future children. For example‚ here in Eastern Quebec a disease that is quite prevalent is Tay-Sachs disease. This
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Period Honors Biology Mrs. Presley Tay Sachs Disease A mutation (or mutating) is changing a structure of a gene. Tay Sachs disease is a lethal mutation inherited as an autosomal recessive disorder‚ it is also known as Hexosaminidase A deficiency‚ GM2-Gangliosidosis‚ or TSD. Tay Sachs is an extremely tragic disease that has no cure. Tay Sachs was named after and discovered by english ophthalmologist Warren Tay and Jewish-American neurologist Bernard Sachs. Tay and Sach’s development and research
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Tay-sachs Disease Genetic disorders happen every day‚ children spend everyday in the hospital. Tay-Sachs is named from Warren Tay (1843-1927) and Bernard Sachs(1858-1954).Tay-Sachs disease is a rare hereditary disease caused by a genetic transfer that leaves the body unable to produce an enzyme necessary for fat metabolism in nerve cells‚ producing central nervous system degeneration. Tay-sachs symptoms are diagnosed according to what causes Tay-sachs. The disease is inherited doctors after diagnosis
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acute crisis situation whereby Maria becomes overwhelmed by the desire to end her life and emotional pain. Maria will then attempt to self-lacerate to reduce her distress or overdose on over the counter or prescribed medication. One of the crisis plans that would prevent her from inflicting harm to self is by encouraging her to call a clinician or duty worker during business hours or call the Triage after business hours for phone coaching to de-escalate her current acute emotional state. As Maria
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The teaching plan will be for the proper use of condoms‚ for high school students ages‚ 13-19. Teenagers going through this stage of development would like to participate and feel some ownership of their lesson plan. Teenagers also have short attention spans‚ so things need to move quickly. (Piccolo 2010) The plan would be to set up a 45 minute class. A few days prior to the class I would introduce the topic and hand out a questionnaire/quiz‚ along with additional lines for comments and other
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Clinical Manual – Nursing Practice Manual John Dempsey Hospital – Department of Nursing The University of Connecticut Health Center TEACHING PLAN FOR: Medication Teaching DESIRED PATIENT OUTCOMES: 1. Patient will verbalize understanding of therapeutic use: a. Rationale b. Target symptoms medication is treating c. Expectations of medication effects 2. Patient will verbalize understanding of medication prescribed: a. Name of medication (generic and trade) b. Dosage c.
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