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Very long chain acyl CoA dehydrogenase deficiency (VLCAD)

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:

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

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.

  1. Make sure baby is fed every 3 hours – while diagnostic tests are pending
  2. Do these lab tests NOW:
  1. Plasma acylcarnitines
  2. Urine organic acids
  3. Liver function tests
  4. Routine labs – glucose, electrolytes, lactate, ammonia
  5. 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.

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.

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