Phenylketonuria is a rare genetic disorder that is caused by

Last updated: 7/26/2022

Phenylketonuria is a rare genetic disorder that is caused by a mutation in the PAH gene. This gene normally codes for the production of an enzyme that breaks down phenylalanine (found in food). Patients with the disorder have a toxic level of phenylalanine in their bodies which causes intellectual disability and seizures. Which of the following best explains why the mutation causes the severe symptoms? A nonsense mutation interferes with the production of phenylalanine A silent mutation impairs the enzyme's function due to improper folding A frameshift mutation impairs the enzyme's function de to improper folding A missense mutation causes too many copies of the enzyme to be transcribed