Etiology and genetics of the disease phenylketonuria

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April 20, 2020

Etiology and genetics of the disease phenylketonuria

Explain the etiology and genetics of disease phenylketonuria (PKU) Phenylketonuria (PKU) refers to a disease found within humans in which the affected individual does not have enzyme phenylalanine hydroxylase. This enzyme is required in order 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. Assume two normal adults have one child who has trait and a second child who is normal.

a) Is PKU inherited as the dominant or recessive trait?

b) Describe how you came to this conclusion

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

d) Explain the genotype of child with PKU?