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14. What type of mutation describes PKU? (2 pts; 3 words max) 15. What is the...

14. What type of mutation describes PKU? (2 pts; 3 words max) 15. What is the benefit of testing all infants for PKU at birth (3 pts; two sentences max)

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Answer #1

14.

Phenylketonuria is an autosomal recessive disorder

15.

Since mother's body can metabolize phenylalanine, a PKU affected individual is normal at birth. Blood samples of the newborn should be obtained within 12 hours of birth and sent for PKU screening. PKU test is done to check whether the newborn baby has the WT gene necessary for Phe metabolism.

PKU test is mandatory because,

1. Since the newborn can not metabolize Phe, he can be given special care with Phe-deprived or less-Phe foods.

2. If Phe is given to the newborn as a part of his regular diet, it will lead to brain damage.

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