Identify a true statement about phenylketonuria.
A) It is also called hypophenylalaninemia.
B) It is a rare genetic disorder that affects cell growth.
C) It causes elevation in blood phenylalanine levels.
D) It is characterized by the abundance of phenylalanine hydroxylase in blood.
E) It occurs because of the presence of high levels of tyrosine in the body.

Question

Quizplus · Accepted Answer

Phenylketonuria (PKU) is a rare genetic disorder caused by a deficiency in the enzyme phenylalanine hydroxylase, which leads to an accumulation of phenylalanine in the blood and prevents the conversion of phenylalanine to tyrosine. This can lead to intellectual disability, developmental delays, and other neurological problems. The elevated levels of phenylalanine in the blood are the hallmark of PKU.

Identify a True Statement About Phenylketonuria