One type of hereditary mutation that results in a defect in the enzyme phenylalanine hydroxylase is called
A)albinism.
B)Tay-Sachs disease.
C)phenylketonuria.
D)muscular dystrophy.
E)prions disease.

Question

Quizplus · Accepted Answer

Phenylketonuria (PKU) is a hereditary disorder caused by a mutation in the gene that codes for the enzyme phenylalanine hydroxylase. This mutation causes the enzyme to be either absent or not fully functional, leading to the inability to break down the amino acid phenylalanine. As a result, toxic levels of phenylalanine accumulate in the blood and brain, leading to intellectual disability and other neurological problems if left untreated.

One Type of Hereditary Mutation That Results in a Defect