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Phenylketonuria (PKU)

Borderline elevation of Phenylalanine

What does this mean? This infant may have an inborn error of metabolism.

Follow these steps:

  1. Contact parent/guardian to check on the health of the infant.

    Clinical considerations:

    • May be asymptomatic in neonate
    • Skin rash, seizures
    • Excessive restlessness, irritable behavior
    • Musty odor of body or urine (not typically present in infant

    Note: PKU and its variants are clinically silent in the newborn period. If the infant has any signs or symptoms you may wish to consult with a pediatric metabolic specialist or you may wish to refer the patient to the Newborn Screening Clinic at Arkansas Children's Hospital. Call 501-364-4050 to speak with the Newborn Screening Coordinator.

  2. Draw and submit a repeat HL-11 newborn screen specimen to the health department.

    Reasons for an abnormal newborn screening and normal follow up testing:

    • Supersaturating or "layering" of blood on filter paper
    • Liver immaturity
    • Infant is on total parenteral nutrition.
  3. No dietary intervention is needed at this time. Continue to feed the baby as usual.

For more information, refer to the health department (ADH) letter that was faxed to you and information at the ADH website.

Critical elevation of phenylalanine and/or increased Phenylalanine to Tyrosine ratio.

What does this mean? This infant may have phenylketonuria or a related disorder. Further testing is required.

Follow these steps:

  1. Contact parent/guardian TODAY to check on the health of the infant.

    Clinical considerations:

    • May be asymptomatic in neonate
    • Skin rash, seizures
    • Excessive restlessness, irritable behavior
    • Musty odor of body or urine (not typically present in infant)
    • No dietary intervention is needed at this time. Continue to feed the baby as usual.
  2. Do these lab tests NOW:
  • Plasma phenylalanine and tyrosine levels – Do tests as soon as possible
  • Plasma amino acids

    Note: Contact metabolic specialist for assistance with interpretation of results: Ph: 501-364-4050 to speak to the Newborn Screening Coordinator

Referral: If the infant has any signs or symptoms, or if testing confirms the diagnosis, a referral to a pediatric metabolic specialist is recommended. For assistance with clinical evaluation and testing, you may wish to refer the patient to Newborn Screening Clinic at Arkansas Children's Hospital. Call 501-364-4050 to speak with the Newborn Screening Coordinator.

For more information, refer to the health department (ADH) letter that was faxed to you and information at the ADH website.

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