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Glutaric acidemia, Type I (GA I)

Borderline elevation of C5-DC 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:

  • May be asymptomatic
  • Macrocephaly
  • Muscle hypotonia
  • Later signs - metabolic ketoacidosis, failure to thrive, sudden onset dystonia and athetosis with febrile illness

Referral: If signs are present or infant is ill, start IV glucose at once and consult a 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 health department

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, 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.


Critical elevation of C5-DC glytarylcarnitine

1. What does this mean? This infant may have Glutaric Aciduria Type I. Further testing is required.

2. What to do:

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

Clinical considerations:

  • May be asymptomatic
  • Macrocephaly
  • Muscle hypotonia
  • Later signs – metabolic ketoacidosis, failure to thrive, sudden onset dystonia and athetosis.

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.

Note: No dietary intervention is needed at this time. Continue to feed the baby if well.

3. Do the following tests NOW:

  • Plasma acylcarnitines
  • Urine organic acids
  • Routine labs – glucose, electrolytes

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.