Borderline elevation of Citrulline

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

  • What to do?
    • Contact parent/guardian to check on the health of the infant. 
    • No dietary intervention is needed at this time. Continue to feed the baby if well.
    • Draw a repeat newborn screening specimen and submit to the State PH Laboratory.

  • Clinical Considerations:
    • Poor feeding
    • Vómitos
    • Lethargy
    • Hipotonía
    • Tachypnea
    • Convulsiones
    • Measure ammonia if infant is symptomatic
  •  

    Referral indicated: If the infant has any signs or symptoms, you may wish to consult with a pediatric metabolic specialist or refer the patient to the Newborn Screening Clinic at Arkansas Children's Hospital. Call 501-364-4050 to speak with the Newborn Screening Coordinator or page at 501-364-1100.

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

Critical elevation of Citrulline

  • What does this mean?
    • This infant may have a urea cycle disorder. Further testing is required.

  • What to do?
    • Contact parent/guardian TODAY to check on the health of the infant.
    • No dietary intervention is needed at this time. Continue to feed the baby if well.
    • Do the following tests NOW:
      • Plasma ammonia
      • Plasma amino acids
      • Urine organic acids

  • Clinical considerations:
    • Poor feeding, vomiting, lethargy, hypotonia
    • Tachypnea, Coma, Seizures
    • Hyperammonemia
    • Liver disease (later signs)

  • Referral: If any sign is present or infant is ill initiate emergency treatment for hyperammonemia in consultation with metabolic specialist. For assistance with clinical evaluation and testing, you may wish to refer the patient to the Newborn Screening Clinic at Arkansas Children's Hospital. 501-364-4050 to speak with the Newborn Screening Coordinator or page at 501-364-1100.

Borderline elevation Citrulline

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

  • Follow these steps:
    • Contact parent/guardian to check on the health of the infant.
    • Measure ammonia if infant is symptomatic
    • No dietary intervention is needed at this time. Continue to feed the baby if well.
    • Draw a repeat newborn screening specimen and submit to the State PH Laboratory

  • Clinical considerations:
    • Poor feeding
    • Vómitos
    • Lethargy
    • Hipotonía
    • Tachypnea
    • Convulsiones
  •  

    Referral indicated: If the infant has any signs or symptoms, you may wish to consult with a pediatric metabolic specialist or refer the patient to the Newborn Screening Clinic at Arkansas Children's Hospital.  Call 501-364-4050 to speak with the Newborn Screening Coordinator or page at 501-364-1100.

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

Critical elevation of Citrulline

  • What does this mean?
    • This infant may have a urea cycle disorder. Further testing is required.

  • Follow these steps:
    • Contact parent/guardian TODAY to check on the health of the infant.
    • No dietary intervention is needed at this time. Continue to feed the baby if well.
    • Do the following tests NOW:
      • Plasma ammonia
      • Urine organic acids

  • Clinical considerations:
    • Poor feeding, vomiting, lethargy, hypotonia
    • Tachypnea, Coma, Seizures
    • Hyperammonemia
    • Liver disease (later signs)

  • Referral: If any sign is present or infant is ill initiate emergency treatment for hyperammonemia in consultation with metabolic specialist. For assistance with clinical evaluation and testing, 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.

    Referral indicated: 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 the Newborn Screening Clinic at Arkansas Children's Hospital. call 501-364-4050 to speak with the Newborn Screening Coordinator or page at 501-364-1100.

Borderline elevation of methionine

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

  • Follow these steps:
    • Contact parent/guardian to check on the health of the infant. Infant usually will not have any symptoms if there is borderline elevation of methionine. If the infant has any signs or symptoms you may wish to consult with a pediatric metabolic specialist. For assistance with clinical evaluation and testing, 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 or page at 501-364-1100.
    • No dietary intervention is needed at this time. Continue to feed the baby if well.
    • Draw a repeat newborn screening specimen and submit to the State PH Laboratory

Critical elevation of methionine, and/or elevated methionine to phenylalanine ratio.

  • What does this mean?
    • This infant may have homocystinuria. Further testing is required.

  • Follow these steps:
    • Contact parent/guardian TODAY to check on the health of the infant.
    • Infant will usually not have any symptoms

  • Do these tests NOW
    • Plasma Amino Acids
    • Plasma total homocysteine

  • 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 501-364-1100 – ask to page UAMS/ACH Newborn Screening Coordinator to schedule either of the above.

Borderline elevation of leucine

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

  • Follow these steps
    • Contact parent/guardian to check on the health of the infant.
    • Draw and submit a repeat HL-11 newborn screen specimen to the health department

  • Clinical considerations
    • Retraso de crecimiento
    • Feeding intolerance
    • Vómitos
    • Lethargy
    • Tachypnea
    • Ketoacidosis
    • Maple syrup odor to urine

  • 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.
    • No dietary intervention is needed at this time. Continue to feed the baby as usual.

  • Referral:
    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.

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

Critical elevation of leucine

  • What does this mean?
    • This infant may have Maple Syrup Urine Disease. Further testing is required.

  • Follow these steps
    • Contact parent/guardian TODAY to check on the health of the infant.
    • Do these lab tests NOW:
      • Plasma amino acids
      • Urine organic acids
      • Urine ketones
      • Routine labs - glucose, electrolytes, lactate, ammonia

  • Clinical considerations:
    • Feeding intolerance
    • Vómitos
    • Lethargy
    • Ketoacidosis
    • Maple syrup odor to urine or cerumen

  • 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.

Borderline elevation of Phenylalanine

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

  • Follow these steps:
    • Contact parent/guardian to check on the health of the infant.
    • Draw and submit a repeat HL-11 newborn screen specimen to the health department.

  • 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)

  • 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
    • No dietary intervention is needed at this time. Continue feeding baby as usual

  • 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.

    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 be phenylketonuria or a related disorder. Further testing is required.

  • Follow these steps:
    • 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 feeding the baby as usual.

  • Do these lab tests NOW:
    • Plasma phenylalanine and tyrosine levels – Do tests as soon as possible
    • Plasma amino acids
    • Note: Contact a 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 the 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.

Borderline elevation of Succinylacetone

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

  • What to do:
    • Contact parent/guardian to check on the health of the infant.
    • Draw and submit a repeat HL-11 newborn screen specimen to the health department

  • Clinical considerations
    • Fever, diarrhea, vomiting
    • Enlarged liver, jaundice
    • Lethargy or irritability
    • Note: No dietary intervention is needed at this time. Continue to feed the baby as usual.

  • Reasons for abnormal newborn screening and normal follow up testing:
    • Supersaturating or "layering" of blood on filter paper
    • Liver immaturity
    • Infant is on total parenteral nutrition.

  • Referral indicated: If the infant has any signs or symptoms, you may wish to consult with a pediatric metabolic specialist or refer the patient to the Newborn Screening Clinic at Arkansas Children's Hospital. Call 501-364-4050 to speak with the Newborn Screening Coordinator or page at 501-222-8724.

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

Critical elevation of Succinylacetone

  • What does this mean?
    • This infant may have Tyrosinemia type 1. Further testing is required.

  • What to do:
    • Contact parent/guardian TODAY to check on the health of the infant.
    • No dietary intervention is needed at this time. Continue to feed the baby if well.
    • Do these tests NOW:
      • Plasma amino acids
      • Urine organic acids

  • Clinical considerations
    • May be asymptomatic in neonate
    • Fever, diarrhea, vomiting, lethargy, and irritability
    • Enlarged liver, jaundice

  • Referral indicated: 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 the Newborn Screening Clinic at Arkansas Children's Hospital. call 501-364-4050 to speak with the Newborn Screening Coordinator.

Have more questions?

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

Arkansas Department of Health website