Etiology and genetics of disease phenylketonuria

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Etiology and genetics of disease phenylketonuria

1) Describe the etiology and genetics of the disease phenylketonuria (PKU).

Phenylketonuria (PKU) refers to a disease found in the humans in which the affected individual does not have enzyme phenylalanine hydroxylase. This enzyme is required to metabolize the amino acid phenylalanine to tyrosine. When left untreated phenylalanine will be transformed to phenylketone and accumulates within the body leading to the brain development disorders, mental retardation and seizures. Consider two normal adults with one child who has the trait and a second child who is normal.

a) Explain whether PKU inherited as a dominant or the recessive trait?

b) Describe how you came to this conclusion

c) State the genotypes of the each of the parents?

d) Explain what is the genotype of the child with PKU?

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