IF Newborn screen GALT activity less than lowest reportable value (e.g. <1.7, <1.8 , <2.4 , etc.)
This shows possible complete absent activity of galactose-1-phosphate uridyltransferase (GALT, or Gal-1-PUT).
This infant may have Classical Galactosemia.This is aserious, life-threatening condition, and an urgent response is required since infants with classic galactosemia can very quickly become acutely ill in the newborn period.
Follow these steps:
- Contact parent/guardian immediately, but within 12 hours. Ask about the health of the infant.
- Excessive jaundice, poor feeding, vomiting
- Lethargy, bulging fontanelle
- Gram-negative sepsis
- Stop breast feeding. Switch infant to soy formula* and consult with a metabolic specialist. Baby may be able to resume breast feeding after urine reducing sugars have been checked.
*DO NOT USE Ready-to-use and concentrated soy formulas since contain galactose.
- Do these tests STAT:
- Quantitative RBC GAL-1-PUT enzyme assay (note: transfusions can invalidate the results of RBC enzyme assays)
- RBC Galactose-1-Phosphate
- Urine galactitol
Note: If the labs in above section are abnormal, this infant needs to be admitted to the hospital, even if the infant appears healthy, for sepsis evaluation and bleeding risk.
- Do these Additional tests:
- Urine reducing substances (Clinitest)
- Must be done while infant is still receiving galactose, or within 24 hours to be reliable.
- DO NOT RESTART LACTOSE -- If the baby was not receiving it at the time the test was done.
- Liver Function Tests, PT/PTT, Complete Blood Count
- If urine reducing sugar is absent and mother wishes to continue breast feeding, please contact a Metabolic Geneticist to discuss.
For questions about clinical evaluation, testing and follow up:
- 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. Download the letter.