About Galactosemia

History of Galactosemia

Galactosemia was first mentioned in a 1908 publication entitled, “Sugar Excretion in Infancy.” It was reported that a breast-fed infant with failure to thrive, enlargement of the liver and spleen, and “galactosuria.”

This infant ceased to excrete galactose through the urine when milk products were removed from the diet. The infant, however, later died because of other complications (the baby had been given tea laced with cognac as treatment as well). An autopsy revealed cirrhosis of the liver, which they thought was due to the infant's alcohol ingestion. Though confirmation of the diagnosis was not possible at that time, it has been generally accepted that Von Ruess was the first to report on a patient with galactosemia.

By 1917, "galactosuria" was a broadly recognized inherited disorder and was treated by removal of milk products from the diet.

Galactosemia Toolkit for Newly Diagnosed Families

The Galactosemia Foundation’s informative guide gives you the tools and resources you need to be the best advocate for your child.

Long-term Complications

Untreated classic galactosemia can result in serious medical outcomes, including feeding problems, cataracts, learning disabilities, neurological impairments, primary ovarian insufficiency, and speech disorders.