The human genetic disease phenylketonuria (PKU) can result from:

Question

Quizplus · Accepted Answer

Phenylketonuria (PKU) is characterized by the inability to convert phenylalanine to tyrosine due to a deficiency of the enzyme phenylalanine hydroxylase. As a result, phenylalanine and its metabolic byproducts accumulate in the body, leading to neurological and developmental problems if not treated. Deficiency of protein in the diet (A) may lead to malnutrition, but not to PKU. Inability to catabolize ketone bodies (B) may result in conditions such as ketoacidosis, but not PKU. Inability to synthesize phenylalanine (D) would be lethal as phenylalanine is an essential amino acid. Production of enzymes containing no phenylalanine (E) would not be related to PKU.

The Human Genetic Disease Phenylketonuria (PKU) Can Result From