Phenylketonuria (PKU) is an autosomal recessive condition that can lead to mental retardation. It is caused by an enzyme deficiency that interferes with phenylalanine metabolism, causing a by-product to accumulate to levels that are toxic to brain development. Intellectual disability due to PKU can be prevented by a special diet that strictly restricts intake of phenylalanine but the diet must be started soon after birth to be effective. Which of the following would be the MOST appropriate and cost-efficient way of identifying individuals who need the special diet?
A) heterozygote screening
B) newborn screening
C) presymptomatic testing
D) prenatal diagnosis
E) amniocentesis

Question

Quizplus · Accepted Answer

Newborn screening is the most appropriate and cost-efficient method for identifying individuals with PKU, as it allows for early detection and timely intervention with a special diet to prevent intellectual disability.

Phenylketonuria (PKU) Is an Autosomal Recessive Condition That Can Lead