āIf the California Newborn Screening (NBS) Program has identified an infant in your care who has a screen-positive result for galactosemia:
What steps do I need to take?
- Consult with a California Childrenās Services Special Care Center (SCC) specialist. They will ask for your assessment of the infantās current health status and if the infant has any signs of the disorder. The SCC specialist or the NBS Program Area Service Center (ASC) staff will order confirmatory tests. The SCC specialist may recommend the immediate cessation of galactose-containing feeds, including breast milk, pending results of confirmatory testing. Further evaluation may be required to make a final diagnosis.
- Contact the family to explain the positive newborn screening test result. For information on how best to communicate, consult the Health Resources & Services Administration Newborn Communication Guide (PDF)ā (or search online for āhrsaā āheritableā ācommunicationā)
- Review the accompanying, āFamily action sheet for galactosemiaā with the family and ensure they understand.
- Remind the family that their infant was positive on a screen, and it is not diagnostic. Emphasize that you, with ASC staff and the SCC specialist, will guide them through the next steps of confirmatory testing and follow-up services.
- Advise parents to (1) follow the plan for confirmatory testing right away, (2) keep their infantās appointments with the SCC specialist, and (3) maintain the diet. The family should receive services from a multidisciplinary team of specialists, including genetic counseling services.
Clinical informāation
Galactosemia is an autosomal recessive disorder caused by pathogenic variants in the GALT gene resulting in deficiency or absence of the GALT enzyme. There is a spectrum of symptoms associated with galactosemia, which correlate to GALT enzyme activity. Classic galactosemia presents with hypoglycemia, vomiting, lethargy, poor suck reflex, jaundice, and sepsis. Newborns with classical galactosemia are at risk for acute decompensation. It may be fatal if not treated.
With early identification and treatment, some classic signs and symptoms of galactosemia may never appear. Galactosemia can be best managed though a low-galactose diet.
Please visit these sites. Search for the site name and āgalactosemiaā if needed.
āQuestions?
For follow-up questions, please call your NBS Program Area Service Center.
For program questions, please email NBS Program staff at
NBS@cdph.ca.govā or visit the
NBS Program website.