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PubMed This is a summary of 50 peer-reviewed journal articles Updated
Pediatrics

Receiving a Positive Newborn Screen for Galactosemia

At a Glance

If your baby has a positive newborn screen for galactosemia, the most critical step is to immediately stop feeding them breastmilk and standard formula. Switch to a soy-based or elemental infant formula right away to prevent severe complications while awaiting confirmatory testing.

Receiving a call about a positive newborn screen for galactosemia is a frightening experience for any parent. It is natural to feel overwhelmed, but it is important to know that this screening was designed to catch this condition before it can cause serious harm. While the news is heavy, this is a treatable condition if managed early [1][2].

What is Galactosemia?

Galactosemia is a rare genetic condition where the body cannot properly break down galactose, a sugar found in milk [3][4]. The body uses a team of enzymes, primarily one called GALT (galactose-1-phosphate uridylyltransferase), to process galactose into energy [5]. In children with classic galactosemia, this enzyme is missing or barely works, causing toxic levels of sugar to build up in the blood and organs [6][7].

Your Immediate Priority

The most urgent step you must take is to stop all sources of milk immediately [2][8]. This includes:

  • Breastmilk: Even though it is natural, breastmilk contains high levels of lactose (which breaks down into galactose). However, do not let your milk supply dry up. You should immediately begin to “pump and dump” your breastmilk. If confirmatory testing reveals your child has the milder Duarte Variant, you may be cleared to safely resume breastfeeding later [9].
  • Standard infant formulas: Most formulas are cow’s milk-based and full of lactose.

You should immediately switch to a soy-based infant formula or an elemental (amino-acid based) infant formula [10][2]. Standard over-the-counter soy infant formulas (like those found at any local 24-hour pharmacy or grocery store) are perfectly safe and can be used instantly. Do not wait for confirmatory test results to make this dietary change.

Signs to Watch For

If your baby was born recently and has been consuming milk, they may already show signs of the condition. Symptoms usually begin within a few days of the baby’s first milk feeds [2]. While these signs can be “nonspecific” (common to many newborn issues), they require immediate medical attention in the context of a positive screen [2]:

  • Jaundice: Yellowing of the skin or the whites of the eyes [2][11].
  • Lethargy: Extreme sleepiness or difficulty waking the baby for feedings [2].
  • Feeding Intolerance: Frequent vomiting or refusing to eat [2].
  • Sepsis Risk: Untreated galactosemia can make babies very vulnerable to serious bacterial infections, particularly E. coli [2]. Your doctor may want to run a blood culture to ensure your baby does not have an infection.

Next Steps: Testing and Specialist Care

A positive newborn screen is a “red flag,” but it is not a final diagnosis. To confirm the result, your medical team will order specialized follow-up tests [12][13]:

  1. GALT Enzyme Activity: A blood test to see exactly how much enzyme activity is present in the red blood cells [14][15].
  2. Genetic Testing: A look at the GALT gene to identify the specific mutations involved [12][16].
  3. Metabolic Consultation: You will be referred to a specialized care team. See Building Your Care Team & Surveillance for what to expect.

While this journey starts with a moment of crisis, the rapid shift to a galactose-restricted diet is highly effective at stopping the acute symptoms and protecting your baby’s immediate health [17][18].

In this guide

4 chapters

01

The Types of Galactosemia & Genetics

Understand the four types of galactosemia, how the GALT gene works, and the critical differences between Classic Galactosemia and the Duarte variant.

02

The Galactosemia Diet & Standard of Care

Learn about the strict galactosemia diet, including essential infant formulas, hidden lactose in medications, safe mature cheeses, and calcium supplements.

03

Long-Term Outcomes & Complications

Learn about long-term outcomes for classic galactosemia, including endogenous production, primary ovarian insufficiency (POI), speech delays, and motor health.

04

Building Your Care Team & Surveillance

Learn how to build a care team for Classic Galactosemia. Discover the recommended surveillance timeline, specialists, and monitoring tests your child needs.

Common questions in this guide

What should I feed my baby after a positive galactosemia screen?
You must immediately stop all breastmilk and cow's milk-based formulas. Switch your baby to a soy-based or elemental infant formula right away, even before confirmatory tests are completed.
Should I stop pumping breastmilk if my baby might have galactosemia?
No, you should not let your milk supply dry up. Continue to 'pump and dump' your breastmilk for now. If follow-up testing shows your baby has the milder Duarte variant, your doctor may clear you to safely resume breastfeeding.
What are the signs of galactosemia in a newborn?
Symptoms typically appear within a few days of a baby's first milk feeds. Watch for jaundice (yellowing of the skin or eyes), extreme sleepiness, frequent vomiting, or a refusal to eat.
What follow-up tests are needed to confirm galactosemia?
A newborn screen is just an initial flag. To confirm the diagnosis, your child's medical team will order a blood test to measure GALT enzyme activity in the red blood cells, along with genetic testing to identify specific gene mutations.

Questions to Ask Your Doctor

Curated prompts to bring to your next appointment.

  1. 1.What were the specific results of the newborn screen, and what is the exact next test being ordered?
  2. 2.Is my baby currently showing any clinical signs of liver stress or jaundice?
  3. 3.Should my baby be started on prophylactic antibiotics while we wait for blood culture results to rule out infection?
  4. 4.Which specific over-the-counter soy-based infant formula do you recommend we use tonight?
  5. 5.Can you help me connect with a pediatric metabolic specialist immediately?

Questions For You

Tap a prompt to share your answer — we'll use it plus this page's context to start a tailored conversation.

References

References (18)
  1. 1

    All aspects of galactosemia: a single center experience.

    Akgun A, Dogan Y

    Journal of pediatric endocrinology & metabolism : JPEM 2023; (36(1)):29-35 doi:10.1515/jpem-2022-0308.

    PMID: 36399011
  2. 2

    Galactosemia.

    Cerone J, Rios A

    Pediatrics in review 2019; (40(Suppl 1)):24-27 doi:10.1542/pir.2018-0150.

    PMID: 31575690
  3. 3

    Qualitative interviews with adults with Classic Galactosemia and their caregivers: disease burden and challenges with daily living.

    Randall JA, Sutter C, Wang S, et al.

    Orphanet journal of rare diseases 2022; (17(1)):138 doi:10.1186/s13023-022-02287-9.

    PMID: 35346295
  4. 4

    Screening for galactosemia: is there a place for it?

    Kotb MA, Mansour L, Shamma RA

    International journal of general medicine 2019; (12()):193-205 doi:10.2147/IJGM.S180706.

    PMID: 31213878
  5. 5

    Abnormal N-glycan fucosylation, galactosylation, and sialylation of IgG in adults with classical galactosemia, influence of dietary galactose intake.

    Treacy EP, Vencken S, Bosch AM, et al.

    JIMD reports 2021; (61(1)):76-88 doi:10.1002/jmd2.12237.

    PMID: 34485021
  6. 6

    Galactose-1-phosphate inhibits cytochrome c oxidase and causes mitochondrial dysfunction in classic galactosemia.

    Machado CM, de-Souza-Ferreira E, Silva GFS, et al.

    Biochimica et biophysica acta. Molecular basis of disease 2024; (1870(7)):167340 doi:10.1016/j.bbadis.2024.167340.

    PMID: 38986816
  7. 7

    Galactose-1-phosphate uridyltransferase deficiency: A literature review of the putative mechanisms of short and long-term complications and allelic variants.

    Viggiano E, Marabotti A, Politano L, Burlina A

    Clinical genetics 2018; (93(2)):206-215 doi:10.1111/cge.13030.

    PMID: 28374897
  8. 8

    Clinical and biochemical phenotypes, genotypes, and long-term outcomes of individuals with galactosemia type I from a single metabolic genetics center in Alberta.

    Almenabawy N, Bahl S, Ostlund AL, et al.

    Molecular genetics and metabolism reports 2024; (38()):101055 doi:10.1016/j.ymgmr.2024.101055.

    PMID: 38469090
  9. 9

    Answering a Question Older Than Most Pediatricians: What to Do About Duarte Variant Galactosemia.

    McCandless SE

    Pediatrics 2019; (143(1)) doi:10.1542/peds.2018-3292.

    PMID: 30593448
  10. 10

    Elevated urine oxalate and renal calculi in a classic galactosemia patient on soy-based formula.

    Sabatino JA, Starin D, Tuchman S, et al.

    JIMD reports 2019; (49(1)):7-10 doi:10.1002/jmd2.12056.

    PMID: 31497475
  11. 11

    Transient Cytopenias as a Rare Presentation of Classic Galactosemia.

    Gianniki M, Nikaina I, Avgerinou G, et al.

    Cureus 2022; (14(3)):e23101 doi:10.7759/cureus.23101.

    PMID: 35464534
  12. 12

    Twelve-year review of galactosemia newborn screening in Taiwan: Evolving methods and insights.

    Chen HA, Hsu RH, Chen LC, et al.

    Molecular genetics and metabolism reports 2024; (38()):101048 doi:10.1016/j.ymgmr.2024.101048.

    PMID: 38469088
  13. 13

    Galactosemia among Positive-screened Patients who Underwent Lactose Challenge: A Review of Records of the Newborn Screening Program.

    Orteza MEV, Abacan MAR

    Acta medica Philippina 2024; (58(18)):56-63 doi:10.47895/amp.vi0.8179.

    PMID: 39483312
  14. 14

    Addition of galactose-1-phosphate measurement enhances newborn screening for classical galactosemia.

    Daas S, Abu Salah N, Anikster Y, et al.

    Journal of inherited metabolic disease 2023; (46(2)):232-242 doi:10.1002/jimd.12580.

    PMID: 36515074
  15. 15

    Recommendations for newborn screening for galactokinase deficiency: A systematic review and evaluation of Dutch newborn screening data.

    Stroek K, Bouva MJ, Schielen PCJI, et al.

    Molecular genetics and metabolism 2018; (124(1)):50-56 doi:10.1016/j.ymgme.2018.03.008.

    PMID: 29580649
  16. 16

    Molecular characterization of novel and rare DNA variants in patients with galactosemia.

    Maroulis V, Agathangelidis A, Skouma A, et al.

    Frontiers in genetics 2023; (14()):1266353 doi:10.3389/fgene.2023.1266353.

    PMID: 38090149
  17. 17

    The natural history of classic galactosemia: lessons from the GalNet registry.

    Rubio-Gozalbo ME, Haskovic M, Bosch AM, et al.

    Orphanet journal of rare diseases 2019; (14(1)):86 doi:10.1186/s13023-019-1047-z.

    PMID: 31029175
  18. 18

    The Importance of Neonatal Screening for Galactosemia.

    Badiu Tișa I, Achim AC, Cozma-Petruț A

    Nutrients 2022; (15(1)) doi:10.3390/nu15010010.

    PMID: 36615667

This page provides educational information about positive galactosemia newborn screens. It does not replace immediate professional medical advice; contact your pediatrician immediately to safely adjust your baby's diet if they have a positive screen.

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