About Galactosemia
Galactosemia is a disorder caused by a genetic mutation that affects how galactose is broken down in the metabolic pathway.
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 Timeline
1908
First Documented Case - Von Ruess, published “Sugar Excretion in Infancy,” a case report on a breast-fed infant who failed to thrive, had enlarged liver and spleen, and “galactosuria”. Infant ceased to excrete galactose when milk products were removed from diet. Infant later died because of cirrhosis - is believed related to cognac-laced tea therapy
1917
Galactosuria - Broadly recognized inherited disorder treated by removal of milk products through diet
1935
First Major Publication - Mason & Turner, published “Galactosemia: Report of Case with Studies of Carbohydrates”
1950
Leloir Pathway - Leloir et al. establish metabolic pathway. He receives the Nobel prize for chemistry in 1970
1956
Discovery of Mutant Gene
1963
First Newborn Screening (”NBS”) - Guthrie & Paigen. 2nd disorder detectable through newborn testing
1990
Waggoner Study - Finds Chronic outcome unrelated to delayed diagnosis/poor dietary compliance
2000
Wider NBS Adoption - Many jurisdictions add CG to NBS. Eg Ontario, Canada in 2005. Results in better detection, improved infant survival
2014
Revised Diet Guidelines - Van Calcar & Bernstein revise diet guidelines. All fruits/vegetables and aged cheeses allowed
2020
The First clinical trial for galactosemia begins & Revised Diet Guidelines - The following were changed from restricted to allowed in moderation: Soy sauce, soy products that are fermented (e.g. miso, —natto, tempeh, tofu), and Meat by-products — Offal.
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.
Recent Diagnosis
Whether your child was recently diagnosed, you are waiting for confirmation results or just trying to learn more about galactosemia, you’ve come to the right place.
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.
