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Galactosemia

IF Newborn screen GALT activity exact value reported between 1.7 and 3.5:

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.

  1. Do this NOW: Contact parent/guardian TODAY to check on the health of the infant.

Clinical considerations:

  • Excessive jaundice
  • poor feeding
  • vomiting
  • lethargy
  • Bulging fontanelle

Note: Symptoms of galactosemia depend on the level of GALT activity.

  1. Do this test NOW: RBC Gal-1- PUT (Galactose 1 phosphate uridyl transferase).
  2. 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.

  1. 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 Clinitest is Negative: breast milk use can be continued while confirmatory testing is pending. Supplement with powder soy formula if needed.

For more information, refer to the ADH letter AND Consult with ACH Metabolic Geneticist at 501-364-1100.

  1. IF NO symptoms, infant is bottle-fed, SWITCH to powder soy formula.

For more information:

  • Refer to the health department (ADH) letter that was faxed to you and information at the ADH website. Download the letter.
  • OR Call 501-364-4050 to speak with the Newborn Screening Coordinator or page at 501-364-1100.

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).
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