Borderline elevation of C5-DC acylcarnitine marker
- What does this mean?
- This infant may have an inborn error of metabolism.
- What to do
- Contact parent/guardian to check on the health of the infant.
- Draw and submit a repeat HL-11 newborn screen specimen to the health department
- 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.
- 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.
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 501-404-9940.
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 glutarylcarnitine
- What does this mean?
- This infant may have Glutaric Aciduria Type I. Further testing is required.
- What to do
- Contact parent/guardian TODAY to check on the health of the infant.
- Note: No dietary intervention is needed at this time. Continue to feed the baby if well.
- Do the following tests NOW:
- Plasma acylcarnitines
- Urine organic acids
- Routine labs – glucose, electrolytes
- 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.
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 501-404-9940.
For more information, refer to the health department (ADH) letter that was faxed to you and information at the ADH website.