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Medium chain acyl CoA dehydrogenase deficiency (MCAD)

Borderline elevation of C8.

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 in the newborn period:
  • 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

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 or MCT formula.

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. Download the letter.


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:

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

Clinical considerations:

  • May be asymptomatic
  • Poor feeding, lethargy, tachypnea
  • Hypoketotic hypoglycemia
  • Metabolic acidosis
  • Hyperammonemia
  • Hepatomegaly
  • Hypotonia
  • 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:
    • Plasma acylcarnitines
    • Urine organic acids
    • Liver function tests
    • Routine labs – glucose, electrolytes, ammonia, CBC

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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