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Propionic acidemia (PROP)

Borderline elevation of C3 acylcarnitine marker

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

2. What to do?

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

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.

b. Draw and submit a repeat HL-11 newborn screen specimen to the healthdepartment

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.

3. 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

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

2. What to do:

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

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.

3. Do the following tests NOW:

1. Plasma acylcarnitines

2. Urine organic acids

3. Plasma homocysteine

4. Routine labs – glucose, electrolytes, ammonia, CBC

4. 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.

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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