Classic Galactosemia (GALT) is an inherited metabolic disorder in which the body cannot properly process a sugar called galactose, which is part of lactose and present in foods containing milk. A build-up of galactose may initially cause symptoms in infants including feeding difficulties, lack of energy, weight loss, nausea and vomiting.  If left untreated, more serious complications may include seizures, liver damage and potential for delayed development. GALT can be fairly well managed with a lactose-free diet throughout life. Early initiation of treatment improves chances for normal growth and development.

There are three different types of Galactosemia linked to three different genes. Classic Galactosemia, the most common and most severe, occurs in 1 in 30,000 to 60,000 newborns. GALT occurs in people of all ethnicities and is more common in people of Irish descent. The Ashkenazi Jewish Carrier Frequency is 1 in 172. Galactosemia is treated at the Program for Inherited Metabolic Diseases at Mount Sinai Hospital.

The above information is compiled from sources including the National Institutes of Health (NIH) Genetics Home Reference and Office of Rare Diseases Research and BabysFirstTest.org and more information and resources area available at these sites.

For information about genetic screening or to find a genetic counselor in your area, visit KnowYourGenes.org