QUESTION 3 3.1 Read the case below and answer the ques…

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QUESTION 3 3.1 Reаd the cаse belоw аnd answer the questiоns that fоllow: Lesh-Nyhan Syndrome (LNS) is a rare but fatal human genetic disorder caused by a recessive allele found on the X-chromosome. Individuals with this disorder have a specific enzyme deficiency which causes a build-up of uric acid in all the body fluids. At birth, infants with the syndrome function normally, but as uric acid increases in their systems, delays in motor development occurs, leading to weak muscles, involuntary muscle spasms and moderate mental retardation. By 2 to 3 years of age, individuals often show self-mutilation behaviour, such as biting of fingers and lips, and the inside of the mouth. Death is usually due to infection, renal failure or uraemia (high levels of uric acid in the blood) between the ages of 10 and 30. After Anne and Mike, who are both healthy, had their only son diagnosed with LNS, the couple went to their families to investigate. Mike’s family had no history of the disorder. Much to Anne’s surprise, her mother told her that Anne’s uncle had suffered from the disorder and died before Anne was born. Adapted from: Lesch-Nyhan Syndrome Information Page | National Institute of Neurological Disorders and Stroke (2021). Available at: https://www.ninds.nih.gov/Disorders/All-Disorders/Lesch-Nyhan-Syndrome-Information-Page (Accessed: 3 May 2021).

QUESTION 3 3.1 Reаd the cаse belоw аnd answer the questiоns that fоllow: Lesh-Nyhan Syndrome (LNS) is a rare but fatal human genetic disorder caused by a recessive allele found on the X-chromosome. Individuals with this disorder have a specific enzyme deficiency which causes a build-up of uric acid in all the body fluids. At birth, infants with the syndrome function normally, but as uric acid increases in their systems, delays in motor development occurs, leading to weak muscles, involuntary muscle spasms and moderate mental retardation. By 2 to 3 years of age, individuals often show self-mutilation behaviour, such as biting of fingers and lips, and the inside of the mouth. Death is usually due to infection, renal failure or uraemia (high levels of uric acid in the blood) between the ages of 10 and 30. After Anne and Mike, who are both healthy, had their only son diagnosed with LNS, the couple went to their families to investigate. Mike’s family had no history of the disorder. Much to Anne’s surprise, her mother told her that Anne’s uncle had suffered from the disorder and died before Anne was born. Adapted from: Lesch-Nyhan Syndrome Information Page | National Institute of Neurological Disorders and Stroke (2021). Available at: https://www.ninds.nih.gov/Disorders/All-Disorders/Lesch-Nyhan-Syndrome-Information-Page (Accessed: 3 May 2021).

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