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Homocystinuria (HCY)

Borderline elevation of methionine.

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. Infant usually will not have any symptoms if there is borderline elevation of methionine. If the infant has any signs or symptoms you may wish to consult with a pediatric metabolic specialist. 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.
  2. No dietary intervention is needed at this time. Continue to feed the baby if well.
  3. Draw a repeat newborn screening specimen and submit to the State PH Laboratory

For more information, refer to the health department (ADH) letter that was faxed to you and information at the ADH website.


Critical elevation of methionine, and/or elevated methionine to phenylalanine ratio.

What does this mean? This infant may have homocystinuria. Further testing is required.

Follow these steps:

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

Clinical consideration:

  • Infant will usually not have any symptoms
  1. Do these lab tests NOW:
  • Plasma Amino Acids
  • Plasma total homocysteine

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 501-364-1100 – ask to page UAMS/ACH Newborn Screening Coordinator to schedule either of the above.


Have more questions?

For more information, refer to the health department (ADH) letter that was faxed to you and information at the ADH website:

OR

Call 501-364-4050 to speak with the Newborn Screening Coordinator or page at 501-364-1100.

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