Definition

Noun: A medical screening procedure performed on newborn infants to detect the presence of phenylketonuria (PKU), an inherited metabolic disorder.

Usage

The term "PKU test" is used specifically to refer to the standard newborn screening for phenylketonuria. - It is typically administered within the first few days of life. - The test is considered a routine and essential public health measure.

Examples

• Noun:
  • All newborns in the hospital received a PKU test before discharge.
  • The results of the baby's PKU test came back normal, which was a relief to the parents.
  • Early diagnosis through the PKU test allows for immediate dietary management.

Advanced Usage

• "to screen for PKU": This phrase is often used interchangeably with "to administer a PKU test" but focuses more on the purpose of the procedure.
  • Hospitals routinely screen for PKU using a heel-prick blood sample.

Variants and Related Words

• Phenylketonuria (PKU) (n): The genetic disorder itself that the test is designed to detect.
  • PKU is caused by the body's inability to process an amino acid called phenylalanine.
• Newborn screening (n): The broader category of tests that includes the PKU test.
  • The PKU test is a critical component of comprehensive newborn screening.
• Heel-prick test (n): A common colloquial term for the blood collection method used in the PKU test and other newborn screens.
  • The nurse performed a heel-prick test to collect a sample for the PKU test.

Synonyms

• Guthrie test (n): A historical term for a specific bacterial inhibition assay used to detect PKU; sometimes used synonymously with "PKU test."
  • The Guthrie test was an early method for the PKU test.

Related Phrases

• "to test positive for PKU": The result indicating the disorder was detected.
  • Fortunately, very few infants test positive for PKU.
• "to come back negative/positive": Refers to the result of the PKU test.
  • We are waiting for the PKU test to come back from the lab.

Noun

1. a test of newborn infants for phenylketonuria