Arkansas Children's Hospital Careers About Arkansas Children's Hospital Contact Us News
Patients and Families Healthcare Professionals Supporters

Galactosemia

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:

  1. Contact parent/guardian immediately, but within 12 hours. Ask about the health of the infant.

Clinical considerations:

  • Excessive jaundice, poor feeding, vomiting
  • Lethargy, bulging fontanelle
  • Bleeding
  • Gram-negative sepsis
  1. 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.

  1. Do these tests STAT:
  1. Quantitative RBC GAL-1-PUT enzyme assay (note: transfusions can invalidate the results of RBC enzyme assays)
  2. RBC Galactose-1-Phosphate
  3. 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.

  1. Do these Additional tests:
  1. Urine reducing substances (Clinitest)
    1. Must be done while infant is still receiving galactose, or within 24 hours to be reliable.
    2. DO NOT RESTART LACTOSE -- If the baby was not receiving it at the time the test was done.
  2. Liver Function Tests, PT/PTT, Complete Blood Count
  3. 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.
Doctors
Health Info
Services
Events
Videos
CareHub
Research
Donate Now
Find us on Facebook Follow us on Twitter Watch our videos on YouTube