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Long chain hydroxyacyl CoA dehydrogenase deficiency (LCHAD)

Borderline elevation of C16-OH acycarnitine marker.

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:

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

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.

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

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.

Have more questions?

  • 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. Download the letter.

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:

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

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 pregn

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.

BE SURE INFANT IS FED FREQUENTLY - EVERY 3 HOURS AROUND THE CLOCK!

  1. Do these lab tests NOW:
    • Plasma acylcarnitines
    • Urine quantitative organic acids
    • Liver function tests
    • Routine labs – glucose, electrolytes, lactate, ammonia
    • CPK

Referral: If the infant has any signs or symptoms, or if testing confirms the diagnosis, a referral to a pediatric metabolic specialist is recommended.

Have more questions?

  • 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 Download the letter.
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