Which disorder is screened in newborns by the Guthrie test to detect elevated phenylalanine levels?

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Multiple Choice

Which disorder is screened in newborns by the Guthrie test to detect elevated phenylalanine levels?

Newborn metabolic screening uses a simple biochemical test to catch disorders that can affect development if not treated early. The test in question specifically targets phenylalanine levels in the blood, because high phenylalanine is a hallmark of phenylketonuria (PKU). PKU results from a deficiency of the enzyme phenylalanine hydroxylase, so phenylalanine builds up and can cause brain damage if not managed. The Guthrie test, developed for this purpose, uses a small blood sample from a newborn (heel prick) and a bacterial inhibition assay to detect elevated phenylalanine. When phenylalanine is high, the assay yields a positive result, prompting early dietary treatment that limits phenylalanine intake and prevents intellectual disability. The other conditions listed are not detected by this PKU-specific newborn screen.

Newborn metabolic screening uses a simple biochemical test to catch disorders that can affect development if not treated early. The test in question specifically targets phenylalanine levels in the blood, because high phenylalanine is a hallmark of phenylketonuria (PKU). PKU results from a deficiency of the enzyme phenylalanine hydroxylase, so phenylalanine builds up and can cause brain damage if not managed. The Guthrie test, developed for this purpose, uses a small blood sample from a newborn (heel prick) and a bacterial inhibition assay to detect elevated phenylalanine. When phenylalanine is high, the assay yields a positive result, prompting early dietary treatment that limits phenylalanine intake and prevents intellectual disability. The other conditions listed are not detected by this PKU-specific newborn screen.

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