Other Names for this Disease
- Galactose-1-phosphate uridyltransferase deficiency
- GALT deficiency
- Galactosemia, classic
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Tests & Diagnosis
Newborn screening programs in many states will test for galactosemia. The diagnosis of this condition is usually established by measurement of erythrocyte galactose-1-phosphate uridyltransferase (GALT) enzyme activity, erythrocyte galactose-1-phosphate (gal-1-P) concentration, and genetic testing looking for mutations in the GALT gene. In classic galactosemia, GALT enzyme activity is less than 5% of control values and erythrocyte gal-1-P is higher than 10 mg/dL.
Last updated: 5/27/2011
- Elsas LJ. Galactosemia. GeneReview. October 2010; http://www.ncbi.nlm.nih.gov/books/NBK1518/. Accessed 5/27/2011.
- Galactosemia. MedlinePlus. January 13, 2016; http://www.nlm.nih.gov/medlineplus/ency/article/000366.htm.
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
- An ACTion (ACT) sheet is available for this condition that describes the short-term actions a health professional should follow when an infant has a positive newborn screening result. ACT sheets were developed by experts in collaboration with the American College of Medical Genetics.
- An Algorithm flowchart is available for this condition for determining the final diagnosis in an infant with a positive newborn screening result. Algorithms are developed by experts in collaboration with the American College of Medical Genetics.
- Baby's First Test is the nation's newborn screening education center for families and providers. This site provides information and resources about screening at the local, state, and national levels and serves as the Clearinghouse for newborn screening information.
- The Newborn Screening Coding and Terminology Guide has information on the standard codes used for newborn screening tests. Using these standards helps compare data across different laboratories. This resource was created by the National Library of Medicine.
- National Newborn Screening and Global Resource Center (NNSGRC) provides information and resources in the area of newborn screening and genetics to benefit health professionals, the public health community, consumers and government officials.