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Tay-Sach Disease

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Phenylketonuria, Tay-Sach’s, and sickle cell anemia are all genetic disorders that affect many body systems; most cannot be cured. These genetic disorders can cause severe health problems that make it difficult to live a normal life. Health professionals can help treat or manage some of the symptoms to make them less severe. These disorders are caused by cell mutations and they cause severe damage to people’s body systems. Phenylketonuria is an inherited genetic disease caused by a mutation in the PAH gene. PKU causes increased levels of phenylalanine in the blood. Phenylalanine, obtained through diet, is a building block of amino acids. Left untreated, the levels of phenylalanine can build up and cause mild to severe health problems. Classic PKU is the name of the most severe form of the disease. Infants begin to show symptoms of classic PKU when they are a few months old. Children with classic PKU will develop permanent intellectual disabilities if left untreated. The most common symptoms are seizures, behavioral issues and developmental delay. Affected individuals might have a musty or mouse-like odor, lighter hair and skin than family members, and eczema. Although there is no cure for PKU, there are …show more content…
It is a rare disorder that destroys nerve cells in the brain and spinal cord. Tay-Sach’s commonly becomes apparent during infancy. Infants with this disease lose motor skills such as the ability to turn over, sit, and crawl. They develop a sensitivity to loud noises. As the disease progresses new symptoms appear such as vision and hearing loss, intellectual disabilities, seizures and paralysis. In severe cases, children with this disease usually only live into early childhood. There is no cure for Tay-Sach’s disease. The goal of treatment is to support and comfort the patient with respiratory care, medication, physical therapy, feeding tubes, and family

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