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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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Symptoms


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What are the signs and symptoms of galactosemia?

If infants with classic galactosemia are not treated promptly with a low-galactose diet, life-threatening complications appear within a few days after birth. Affected infants typically develop feeding difficulties, diarrhea, vomitting, a lack of energy, failure to thrive, jaundice, liver damage, and bleeding. Other serious complications can include overwhelming bacterial infections (sepsis) and shock. Affected children are also at increased risk of developmental delay, cataract, speech difficulties, and intellectual disability. Females with classic galactosemia may experience reproductive problems caused by ovarian failure.[1]

Galactosemia type II causes fewer medical problems than the classic type. Affected infants may develop cataracts, but otherwise usually experience few long-term complications. The signs and symptoms of galactosemia type III vary from mild to severe and can include cataracts, delayed growth and development, intellectual disability, liver disease, and kidney problems.[1]
Last updated: 5/27/2011

References
  1. Galactosemia. Genetics Home Reference. January 2008; http://www.ghr.nlm.nih.gov/condition=galactosemia. Accessed 6/9/2011.