This showed a borderline decrease in the activity of galactose-1-phosphate uridyltransferase (GALT, or Gal-1-PUT).

Screens in the borderline range often indicate a heterozygote/carrier or mild variant of Galactosemia.

  • Do this NOW:
    • Contact parent/guardian TODAY to check on the health of the infant.
    • Do this test NOW: 
      • RBC Gal-1- PUT (Galactose 1 phosphate uridyl transferase).
      • IF infant has symptoms and is bottle-fed or breast fed, SWITCH to powder soy formula* AND Consult with ACH Metabolic Geneticist at 501-364-1100.
      • *DO NOT USE Ready-to-use and concentrated soy formulas since contain galactose.
    • IF Clinitest is Negative: breast milk use can be continued while confirmatory testing is pending. Supplement with powder soy formula if needed. 
    • If NO symptoms and baby is doing well on breast milk or combined breast/bottle feeds AND Mother wants to continue breast feeding, Do a Clinitest for urine reducing substances. IF Clinitest is POSITIVE - SWITCH to powder soy formula and Call Metabolic Geneticist to discuss 501-364-1100.
    • IF NO symptoms, infant is bottle-fed, SWITCH to powder soy formula.

  • Clinical considerations
    • Excessive jaundice
    • Poor feeding
    • Vómitos
    • Lethargy
    • Bulging fontanelle
    • Note: Symptoms of galactosemia depend on the level of GALT activity.

  • Additional Information
    • Continued treatment for confirmed diagnosis of Galactosemia
      • If GALT (Gal-1-PUT) <1 on confirmatory testing: Infant has classical galactosemia – Lactose (galactose) free diet for life.
      • If GALT (Gal-1-PUT) between 1.1 and 10 on confirmatory testing: Galactose restriction depends on urine galactitol and RBC Galactose-1-Phosphate levels. Call Metabolic Geneticist to discuss (at ACH, 501-364-1100).
  • For more information, refer to the ADH letter AND Consult with ACH Metabolic Geneticist at 501-364-1100.

    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.

This shows possible complete absent activity of galactose-1-phosphate uridyltransferase (GALT, or Gal-1-PUT).

This infant may have Classical Galactosemia. This is a serious, 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.
    • 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.

  • Clinical considerations
    • Excessive jaundice, poor feeding, vomiting
    • Lethargy, bulging fontanelle
    • Bleeding
    • Gram-negative sepsis

  • 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.