What genetic disorder is associated with the lack of an enzyme necessary for the normal metabolism of the amino acid phenylalanine?
A) Phenylketonuria (PKU)
B) Marfan syndrome
C) Huntington disease
D) Sickle cell disease
E) Cystic fibrosis (CF)

Question

Quizplus · Accepted Answer

Phenylketonuria (PKU) is associated with the lack of the enzyme necessary for the metabolism of phenylalanine. Marfan syndrome is associated with a defect in the elastic connective tissue protein called fibrillin. Huntington disease is caused by a mutation to the protein huntingtin. Sickle cell disease is an irregular shape of the red blood cells. Cystic fibrosis (CF) is associated with a faulty protein channel in the cell membrane.Bloom's

What Genetic Disorder Is Associated with the Lack of an Enzyme