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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Galactosemia


Other Names for this Disease
  • Galactose-1-phosphate uridyltransferase deficiency
  • Galactosemia, classic
  • GALT deficiency
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Tests & Diagnosis


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How is galactosemia diagnosed?

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.[1]
Last updated: 5/27/2011

References
  1. Elsas LJ. Galactosemia. GeneReview. October 2010; http://www.ncbi.nlm.nih.gov/books/NBK1518/. Accessed 5/27/2011.
  2. Galactosemia. MedlinePlus. April 2009; http://www.nlm.nih.gov/medlineplus/ency/article/000366.htm. Accessed 5/27/2011.


Testing

  • 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.

Newborn Screening

  • An ACTion (ACT) sheet for this condition has been developed by experts in collaboration with the American College of Medical Genetics, an organization providing education, resources and a voice for the medical genetics profession. ACT sheets are general guidelines that describe the short-term actions a health professional should follow in talking with the family and deciding the appropriate steps in the follow-up of an infant who has screened positive on a newborn screening test. Click on the link above to view the ACT sheet.
  • An Algorithm for this condition has been developed by experts in collaboration with the American College of Medical Genetics, an organization providing education, resources and a voice for the medical genetics profession. Algorithms are general guidelines for healthcare providers outlining steps involved in determining the diagnosis of an infant who has screened positive on a newborn screening test. Click on the link above to view the Algorithm.
  • 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 created by the National Library of Medicine (NLM) at the National Institutes of Health (NIH) promotes and facilitates the use of electronic health data standards in recording and transmitting newborn screening test results. The Web site includes standard codes and terminology for newborn tests and conditions for which they screen, and links to related sites. Click on the link to view details for this condition.
  • 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.