This is an inherited disorder that results in the inability to break down galactose, a sugar found in all milk and milk products. Within the first 2 weeks of life, untreated infants born with this condition experience vomiting,
liver disease, mental retardation, and failure to thrive, which may result in death. Providing a milk-free diet is the recommended treatment.
All U.S. states now require a test for galactosemia in newborns. Testing for this disorder is one of the 29 screening tests recommended for all newborns in the national standards announced in 2006. The standards, developed by the American College of Medical Genetics, were commissioned by the Health Resources and Services Administration.
Limitation of galactosemia screening:
A test for galactosemia does not detect carriers of this condition.
