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Fatty Acid Oxidation Disorders

Carnitine uptake deficiency (CUD)

Decrease CO (free carnitine)

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:

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

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. 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.

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 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:

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

    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.

  1. FREQUENT FEEDS - every 3 hours – WHILE DIAGNOSTIC TESTS ARE PENDING

Do these lab tests NOW:

1. Free and total carnitine in plasma and urine

2. Liver function tests

3. Routine labs – glucose, electrolytes, ammonia

4. 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 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.

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