Borderline elevation of C8.

  • This infant may have an inborn error of metabolism.

  • Follow these steps:
    • Contact parent/guardian to check on the health of the infant.
    • Make sure baby is fed every 3 hours. (If infant is on TPN contact pediatric metabolic specialist regarding intralipid administration).
    • Draw and submit a repeat HL-11 newborn screen specimen to the health department.

  • Clinical considerations:
    • Hypoglycemia
    • Lethargy or coma
    • Metabolic acidosis
    • Hypotonia
    • Later symptoms include: hepatomegaly, Reye syndrome-like episodes (hepatic encephalopathy), seizures, and sudden death
    • Family history of sudden death in siblings

  • Reasons for an abnormal HL-11 and normal follow-up testing
    • Supersaturating or "layering" of blood on filter paper
    • Liver immaturity
    • Infant is on total parenteral nutrition or MCT formula.

  • Referral: If signs are present or infant is ill, initiate emergency treatment with IV glucose. Transport to hospital for further treatment in consultation with pediatric metabolic specialist. Call 501-364-4050 to speak with 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 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 C8 with lesser elevations of C6 and C10 acylcarnitines.

  • This infant may have Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCAD). 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 acylcarnitines
      • Urine organic acids
      • Liver function tests
      • Routine labs – glucose, electrolytes, ammonia, CBC

  • Clinical considerations
    • May be asymptomatic
    • Poor feeding, lethargy, tachypnea
    • Hypoketotic hypoglycemia
    • Metabolic acidosis
    • Hyperammonemia
    • Hepatomegaly
    • Hypotonia
    • History of sudden death in siblings
    • Make sure baby is fed every 3 hours – while diagnostic tests are pending


  • 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 or page 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 C14:1 acylcarnitine.

  • What does this mean?
    • This infant may have Very Long Chain Acyl-oA Dehydrogenase deficiency. Further testing is required.

  • Follow these steps:
    • Contact parent/guardian TODAY to check on the health of the infant.
    • Make sure the baby is fed every 3 hours - while diagnostic tests are pending.
    • Do these lab test NOW:
      • Plasma acylcarnitines
      • Urine organic acids
      • Liver function tests
      • Routine labs – glucose, electrolytes, lactate, ammonia
      • CPK

  • Clinical considerations
    • May be asymptomatic
    • Poor feeding, lethargy, tachypnea
    • Hepatomegly, cardiac compensation
    • Hypotonia
    • Hypoketotic hypoglycemia
    • Metabolic acidosis
    • Hyperammonemia
    • History of sudden death in siblings

  • Referral: If signs are present or infant is ill, check urine ketones and initiate emergency treatment with IV glucose. Transport to hospital for further treatment in consultation with pediatric metabolic specialist. Call 501-364-4050 to speak with 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 or page 501-222-8724.

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

Borderline elevation of C16-OH acycarnitine marker.

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

  • Follow these steps:
    • Contact parent/guardian to check on the health of the infant.
    • Make sure baby is fed every 3 hours. (If infant is on TPN contact pediatric metabolic specialist regarding intralipid administration).
    • Draw and submit a repeat HL-11 newborn screen specimen to the health department.

  • Clinical considerations
    • Poor feeding, vomiting, lethargy
    • Hypoglycemia
    • Metabolic acidosis
    • Hepatomegaly
    • Cardiac insufficiency
    • History of sudden unexpected death in a sibling
    • Maternal liver disease during pregnancy

  • Reasons for an abnormal HL-11 and normal follow-up testing:
    • Supersaturating or "layering" of blood on filter paper
    • Liver immaturity
    • Infant is on total parenteral nutrition.
  • Referral: If signs are present or infant is ill, initiate emergency treatment with IV glucose. Transport to hospital for further treatment in consultation with pediatric metabolic specialist. Call 501-364-4050 to speak with the Newborn Screening Coordinator.

    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 or page 501-364-1100

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

Highly elevated C16-OH +/- C18:1-OH and other long chain acylcarnitines.

  • What does this mean?
    • This infant may have Long Chain Hydroxyacyl-CoA Dehydrogenase deficiency (LCHAD) or Trifunctional Protein deficiency. Further testing is required.

  • Follow these steps:
    • Contact parent/guardian TODAY to check on the health of the infant.
    • Be sure infant is fed frequently - every 3 hours around the clock.
    • Do these lab test NOW:
      • Plasma acylcarnitines
      • Urine quantitative organic acids
      • Liver function tests
      • Routine labs – glucose, electrolytes, lactate, ammonia
      • CPK

  • Clinical considerations
    • May be asymptomatic
    • Poor feeding, vomiting, lethargy
    • Metabolic acidosis
    • Hypoglycemia
    • Hepatomegaly
    • Cardiac insufficiency
    • History of sudden unexpected death in sibling
    • Maternal liver disease during pregnancy

  • Referral: If signs are present or infant is ill, check urine ketones and initiate emergency treatment with IV glucose. Transport to hospital for further treatment in consultation with pediatric metabolic specialist. Call 501-364-4050 to speak with 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 or page 501-364-1100.

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

Borderline elevation of C16-OH acycarnitine marker.

  • 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.
    • Make sure baby is fed every 3 hours. (If infant is on TPN contact pediatric metabolic specialist regarding intralipid administration).
    • Draw and submit a repeat HL-11 newborn screen specimen to the health department.

  • Clinical considerations
    • Poor feeding, vomiting, lethargy
    • Hypoglycemia
    • Metabolic acidosis
    • Hepatomegaly
    • Cardiac insufficiency
    • History of sudden unexpected death in a sibling
    • Maternal liver disease during pregnancy

  • Reasons for an abnormal HL-11 and normal follow-up testing
    • Supersaturating or "layering" of blood on filter paper
    • Liver immaturity
    • Infant is on total parenteral nutrition.
  • 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 or page 501-364-1100.

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

Highly elevated C16-OH +/- C18:1-OH and other long chain acylcrnitines.

  • What does this mean?
    • This infant may have Long Chain Hydroxyacyl-CoA Dehydrogenase deficiency (LCHAD) or Trifunctional Protein deficiency. Further testing is required.

  • Follow these steps:
    • Contact parent/guardian TODAY to check on the health of the infant
    • Be sure the infant is fed frequently - every 3 hours around the clock.
    • Do these lab tests NOW:
      • Plasma acylcarnitines
      • Urine quantitative organic acids
      • Liver function tests
      • Routine labs – glucose, electrolytes, lactate, ammonia
      • CPK

  • Clinical considerations
    • May be asymptomatic
    • Poor feeding, vomiting, lethargy
    • Metabolic acidosis
    • Hypoglycemia
    • Hepatomegaly
    • Cardiac insufficiency
    • History of sudden unexpected death in sibling
    • Maternal liver disease during pregnancy

  • Referral: If signs are present or infant is ill, check urine ketones and initiate emergency treatment with IV glucose. Transport to hospital for further treatment in consultation with pediatric metabolic specialist. Call 501-364-4050 to speak with 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 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.

Decrease CO (free carnitine)

  • 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
    • Variable symptoms
    • Poor feeding
    • Lethargy
    • Tachypnea
    • Tachycardia
    • Hepatomegaly
    • Reduced muscle tone
    • Hypoglycemia
    • Cardiomyopathy, cardiac insufficiency
    • History of sudden unexpected death in a sibling

  • Reasons for an abnormal HL-11 and normal follow-up testing
    • Supersaturating or “layering” of blood on filter paper
    • Liver immaturity
    • Infant is on total parenteral nutrition.

  • Referral: If signs are present or infant is ill, initiate emergency treatment with IV glucose. Transport to hospital for further treatment in consultation with pediatric metabolic specialist. Call 501-364-4050 to speak with 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 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 decrease of CO (free carnitine)

  • What does this mean?
    • This infant or its mother may have Carnitine Uptake Deficiency. Further testing is required.

  • Follow these steps:
    • Contact parent/guardian to check on the health of the infant.
    • Frequent feeds - every 3 hours while diagnostic tests are pending.
    • Do these labs NOW:
      • Free and total carnitine in plasma and urine
      • Liver function tests
      • Routine labs – glucose, electrolytes, ammonia
      • CPK

  • Clinical considerations
    • May be asymptomatic
    • Poor feeding, lethargy, tachypnea
    • Tachycardia
    • Heart failure
    • Hepatomegaly
    • Hypotonia
    • Hypoglycemia

  • Note: If signs are present or infant is ill, check urine ketones and initiate emergency treatment with IV glucose. Transport to hospital for further treatment in consultation with pediatric metabolic specialist. Call 501-364-4050 to speak with 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 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.