What Are Some Causes of Galactosemia?


Quick Answer

Galactosemia is a rare genetic disorder that occurs when both parents are carriers and pass on the gene to their offspring, reports the American Liver Foundation. Even when both parents carry the recessive genetic trait, there is only a 25 percent chance that their children inherit it. Doctors usually detect galactosemia through standard blood tests at newborn screenings, and if the disease is left untreated, up to 75 percent of diagnosed infants die.

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Full Answer

Galactose is a type of sugar present in a variety of foods, explains the American Liver Foundation. The body normally breaks it down as part of the digestive process, but galactosemia causes it to build up in the blood. Although no obvious symptoms are present at birth, babies soon manifest diarrhea, vomiting and jaundice and do not gain weight. Complications develop such as kidney failure, enlarged liver, brain damage and eye cataracts. There are often long-term complications including delays in motor skill development, problems with language and speech, and learning disabilities.

As of 2015, there is no medication that substitutes for the missing enzyme that enables the body to process galactose, so people with galactosemia must completely exclude galactose from their diets, cautions the American Liver Foundation. They cannot consume breast milk, cow's milk or baby formula based on cow's milk, points out About.com. They must also avoid cheese, butter, margarine, yogurt and any other products listing dry milk in the ingredients. Instead, they must consume soy-based baby formulas, soy proteins and rice drinks.

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