PATHOLOGY MCQ
GENETICS AND DISEASE
Question
[CLICK ON ANY CHOICE TO KNOW THE RIGHT ANSWER]
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red-green colorblindness
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PKU
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Huntington’s disease
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Trisomy 21
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Detailed explanation-1: -Classical PKU is an autosomal recessive disorder, caused by mutations in both alleles of the gene for phenylalanine hydroxylase (PAH), found on chromosome 12.
Detailed explanation-2: -Diet. The main treatment for PKU is a low-protein diet and controlled intake of many other foods, such as potatoes and cereals. High protein foods should be completely avoided.
Detailed explanation-3: -There is no cure for PKU, but treatment can prevent intellectual disabilities and other health problems. A person with PKU should receive treatment at a medical center that specializes in the disorder.
Detailed explanation-4: -Phenylketonuria is a genetic condition where levels of phenylalanine build up in your body. If left untreated, phenylketonuria can affect a person’s cognitive development. Treatment with medications and/or dietary changes help reduce symptoms.