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Tyrosinemia, Type 1 (TYR-1)

Borderline elevation of Succinylacetone

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:

  • Fever, diarrhea, vomiting
  • Enlarged liver, jaundice
  • Lethargy or irritability

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

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, 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 Succinylacetone

1. What does this mean? This infant may have Tyrosinemia type 1. 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 in neonate
  • Fever, diarrhea, vomiting, lethargy, and irritability
  • Enlarged liver, jaundice

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

3. Do the following tests NOW:

1. Plasma amino acids

2. Urine organic acids

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.


Have more questions?

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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