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

question 31

Multiple Choice

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

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Definitions:

Estimates

Approximations or educated guesses used in accounting and finance to project future values or record uncertain current values.