Who Discoverered Galactosemia?


Quick Answer

Dr. Von Ruess discovered galactosemia and reported his findings in 1908 when he published "Sugar Excretion in Infancy," according to the Galactosemia Foundation. Dr. Ruess described the symptoms of a breast-fed infant that had an enlarged spleen and liver, failed to thrive, and excreted galactose through the urine.

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Full Answer

Galactosemia is a rare, inherited disorder that prevents the body from processing galactose, a food sugar in dairy products, according to the University of Utah. The disorder occurs once in about 55,000 births. In severe cases, symptoms of the disorder can include cataracts, kidney failure and mental disability. Most babies receive blood tests at birth that can reveal low levels of the GALT enzyme, which is a sign of galactosemia. Physicians treat galactosemia by restricting patients from consuming beverages and foods containing the sugar, such as milk, cheese and dried beans.

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