NCC Knowledge Nugget Series- Classic Galactosemia ACT Sheet-Classic Galactosemia ACT Sheet

Classic Galactosemia ACT Sheet

Pdf Summary

This document is an ACT Sheet that provides information on newborn screening for absent/reduced Galactose-1-Phosphate Uridyltransferase (GALT) and classic galactosemia. Galactosemia is a group of inherited disorders that affect the body's ability to metabolize galactose, a sugar found in lactose. Classic galactosemia is caused by a deficiency of the GALT enzyme and can lead to life-threatening complications if not treated early. The Duarte variant is a milder form of galactosemia.<br /><br />Immediate actions recommended include informing the family of the newborn screening result, discontinuing breast feeding or cow's milk formulas, and initiating non-lactose-based feedings with a soy formula. Consultation with a pediatric metabolic specialist is also advised. The newborn should be evaluated for symptoms such as jaundice, poor feeding, vomiting, lethargy, bulging fontanel, and bleeding, and if present or if the newborn is ill, transfer to a hospital for further treatment.<br /><br />Diagnostic evaluation includes measuring red blood cell GALT activity and galactose-1-phosphate (gal-1-P) levels. Molecular genetic testing may be required for confirmation. Classic galactosemia presents in the first few days of life and requires the avoidance of galactose-containing foods and the use of soy-based formulas. The Duarte variant does not have a standard accepted management, but high galactose foods may be restricted in early childhood.<br /><br />Additional resources provided in the document include information on how to communicate newborn screening results, Gene Reviews, Medline Plus, and resources for families. Referral resources for genetics clinics and the Genetic Testing Registry are also included.<br /><br />The document emphasizes that adherence to this practice resource is voluntary and that clinicians should use their professional judgment in applying the recommendations to individual patients. It also highlights the importance of considering the date of adoption of the resource and any new medical or scientific information that becomes available.

Keywords

newborn screening

Galactose-1-Phosphate Uridyltransferase

classic galactosemia

inherited disorders

metabolize galactose

GALT enzyme

Duarte variant

breast feeding

soy formula

pediatric metabolic specialist