Galactosemia

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
  • Vomiting
  • 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.