Borderline elevation of C5-DC acylcarnitine marker

  • 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
    • May be asymptomatic
    • Macrocephaly
    • Muscle hypotonia
    • Later signs - metabolic ketoacidosis, failure to thrive, sudden onset dystonia and athetosis with febrile illness
    • Referral: If signs are present or infant is ill, start IV glucose at once and consult a metabolic specialist. Call 501-364-4050 to speak with the Newborn Screening Coordinator.

  • 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.

  • 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 501-404-9940.

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

Critical elevation of C5-DC glytarylcarnitine

  • What does this mean?
    • This infant may have Glutaric Aciduria Type I. Further testing is required.

  • What to do
    • Contact parent/guardian TODAY to check on the health of the infant.
    • Note: No dietary intervention is needed at this time. Continue to feed the baby if well.
    • Do the following tests NOW:
      • Plasma acylcarnitines
      • Urine organic acids
      • Routine labs – glucose, electrolytes

  • Clinical considerations
    • May be asymptomatic
    • Macrocephaly
    • Muscle hypotonia
    • Later signs – metabolic ketoacidosis, failure to thrive, sudden onset dystonia and athetosis.
    • 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 metabolic specialist. 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 501-404-9940.

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

Borderline elevation of C5OH acylcarnitine marker

  • 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
    • Poor feeding, vomiting, lethargy, tachypnea
    • Ketonuria
    • Metabolic ketoacidosis
    • Hyperammonemia
    • Hypoglycemia
    • Referral: If signs are present or infant is ill, check urine ketones and initiate emergency treatment with start IV glucose. Transport to hospital for further treatment in consultation with metabolic specialist. Call 501-364-4050 to speak with the Newborn Screening Coordinator.

  • 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.
    • 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 C5OH acylcarnitine

  • What does this mean?
    • This infant may have an Organic Acidemia. Further testing is required.

  • What to do
    • Contact parent/guardian TODAY to check on the health of the infant.
    • Do the following tests NOW:
      • Plasma acylcarnitines
      • Urine quantitative organic acids on infant and mother
      • Routine labs – glucose, electrolytes, ammonia
      • Check biotinidase screening result – done on newborn screening
      • 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.

  • Clinical considerations
    • Symptoms vary and depend on type of organic academia, generally:
      • May be asymptomatic
      • Poor feeding, vomiting, lethargy, tachypnea
      • Hypoglycemia
      • Metabolic ketoacidosis
      • Hyperammonemia
      • Ketonuria
      • 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 metabolic specialist. 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 C5OH acylcarnitine marker

  • 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
    • Poor feeding, vomiting, lethargy, tachypnea
    • Ketonuria
    • Metabolic ketoacidosis
    • Hyperammonemia
    • Hypoglycemia
    • Referral: If signs are present or infant is ill, check urine ketones and initiate emergency treatment with start IV glucose. Transport to hospital for further treatment in consultation with metabolic specialist. Call 501-364-4050 to speak with the Newborn Screening Coordinator.
  • 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.
    • 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.

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

Critical elevation of C5OH acylcarnitine

  • What does this mean?
    • This infant may have an Organic Acidemia. Further testing is required.

  • What to do
    • Contact parent/guardian TODAY to check on the health of the infant.
    • Do the following tests NOW:
      • Plasma acylcarnitines
      • Urine quantitative organic acids on infant and mother
      • Routine labs – glucose, electrolytes, ammonia
      • Check biotinidase screening result – done on newborn screening
      • 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 501-404-9940.

  • Clinical considerations – symptoms vary and depend on type of organic academia. Generally:
    • May be asymptomatic
    • Poor feeding, vomiting, lethargy, tachypnea
    • Hypoglycemia
    • Metabolic ketoacidosis
    • Hyperammonemia
    • Ketonuria
    • 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 metabolic specialist. 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 C5:1 acylcarnitine marker

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

  • What do to
    • 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
    • Poor feeding, vomiting, lethargy, tachypnea
    • Ketonuria
    • Metabolic ketoacidosis
    • Hyperammonemia
    • Hypoglycemia
    • 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 metabolic specialists. Call 501-364-4050 to speak with the Newborn Screening Coordinator.

  • 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.
    • 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 ScreeningCoordinator 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 C5:1 acylcarnitine

  • What does this mean?
    • This infant may have Beta-ketothiolase deficiency. Further testing is required.

  • What to do
    • Contact parent/guardian TODAY to check on the health of the infant.
    • Do the following tests NOW:
      • Plasma acylcarnitines
      • Urine quantitative organic acids on infant and mother
      • Routine labs – glucose, electrolytes, ammonia
      • 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.

  • Clinical considerations – symptoms vary, Generally:
    • May be asymptomatic
    • Poor feeding, vomiting, lethargy, and tachypnea
    • Hypoglycemia
    • Metabolic ketoacidosis
    • Hyperammonemia
    • Ketonuria
    • 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 metabolic specialist. 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 C5OH acylcarnitine marker

  • 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
    • Poor feeding, vomiting, lethargy, tachypnea
    • Ketonuria
    • Metabolic ketoacidosis
    • Hyperammonemia
    • Hypoglycemia
    • Referral: If signs are present or infant is ill, check urine ketones and initiate emergency treatment with start IV glucose. Transport to hospital for further treatment in consultation with metabolic specialist. Call 501-364-4050 to speak with the Newborn Screening Coordinator.

  • 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.
    • 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 C5OH acylcarnitine

  • What does this mean?
    • This infant may have an Organic Acidemia. Further testing is required.

  • What to do
    • Contact parent/guardian TODAY to check on the health of the infant.
    • Do the following tests NOW:
      • Plasma acylcarnitines
      • Urine quantitative organic acids on infant and mother
      • Routine labs – glucose, electrolytes, ammonia
      • Check biotinidase screening result – done on newborn screening
      • 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.

  • Clinical considerations - symptoms vary and depend on type of organic academia. Generally:
    • May be asymptomatic
    • Poor feeding, vomiting, lethargy, tachypnea
    • Hypoglycemia
    • Metabolic ketoacidosis
    • Hyperammonemia
    • Ketonuria
    • 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 metabolic specialist. 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 C3 acylcarnitine marker

  • 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:
    • Poor feeding, vomiting, lethargy, tachypnea
    • Dehydration
    • Metabolic ketoacidosis
    • Hyperammonemia
    • Hypoglycemia
    • Referral: If signs are present or infant is ill, check urine ketones and initiate emergency treatment with start IV glucose. Transport to hospital for further treatment in consultation with metabolic specialist. Call 501-364-4050 to speak with the Newborn Screening Coordinator.

  • 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.
    • 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 501-404-9940.

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

Critical elevation of C3 acylcarnitine

  • What does this mean?
    • This infant may have Propionic Acidemia or Methylmalonic Acidemia. Further testing is required.

  • What to do
    • Contact parent/guardian TODAY to check on the health of the infant.
    • Do the following tests NOW:
      • Plasma acylcarnitines
      • Urine organic acids
      • Plasma homocysteine
      • Routine labs – glucose, electrolytes, ammonia, CBC
      • 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 501-404-9940.

  • Clinical considerations:
    • Poor feeding, vomiting, lethargy
    • Hypotonia, tachypnea, coma
    • Seizures
    • Hypoglycemia
    • Hyperammonemia, Metabolic ketoacidosis
    • 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 metabolic specialist. 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 C3 acylcarnitine marker

  • 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
    • Poor feeding, vomiting, lethargy, tachypnea
    • Dehydration
    • Metabolic ketoacidosis
    • Hyperammonemia
    • Hypoglycemia
    • Referral: If signs are present or infant is ill, check urine ketones and initiate emergency treatment with start IV glucose. Transport to hospital for further treatment in consultation with metabolic specialist. Call 501-364-4050 to speak with the Newborn Screening Coordinator.

  • 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.
    • 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 C3 acylcarnitine

  • What does this mean?
    • This infant may have Propionic Acidemia or Methylmalonic Acidemia. Further testing is required.

  • What to do
    • Contact parent/guardian TODAY to check on the health of the infant.
    • Do the following tests NOW:
      • Plasma acylcarnitines
      • Urine organic acids
      • Plasma homocysteine
      • Routine labs – glucose, electrolytes, ammonia, CBC
      • 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.

  • Clinical considerations
    • Poor feeding, vomiting, lethargy
    • Hypotonia, tachypnea, coma
    • Seizures
    • Hypoglycemia
    • Hyperammonemia, Metabolic ketoacidosis
    • 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 metabolic specialist. 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 C5 acylcarnitine marker

  • 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
    • Poor feeding, vomiting, lethargy, tachypnea
    • Odor of sweaty feet
    • Dehydration
    • Metabolic ketoacidosis
    • Hyperammonemia
    • Hypoglycemia
    • Referral: If signs are present or infant is ill, check urine ketones and initiate emergency treatment with start IV glucose. Transport to hospital for further treatment in consultation with metabolic specialist. Call 501-364-4050 to speak with the Newborn Screening Coordinator.

  • 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.
    • 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 C5 acylcarnitine

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

  • What to do
    • Contact parent/guardian TODAY to check on the health of the infant.
    • Do the following tests NOW:
      • Plasma acylcarnitines
      • Urine organic acids
      • Urine ketones
      • Routine labs – glucose, electrolytes, ammonia
      • 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.

  • Clinical considerations
    • Poor feeding, vomiting, lethargy, tachypnea
    • Odor of sweaty feet
    • Dehydration, Metabolic ketoacidosis
    • Hyperammonemia
    • Hypoglycemia
    • Acidosis
    • 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 metabolic specialist. 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.