Also known as: GALT deficiency.
What is galactosemia?
A rare genetic metabolic disorder that affects an individual's ability to metabolize the sugar galactose properly. Galactose is a sugar that’s present in milk and dairy products. The body converts it into glucose in order to use it. When the body is not able to break down and use galactose, this condition is known as galactosemia.
What causes galactosemia?
In individuals with galactosemia, the enzymes needed for further metabolism of galactose (Galactose-1-phosphate uridyltransferase) are severely diminished or missing entirely, leading to toxic levels of galactose 1-phosphate in various tissues as in the case of classic galactosemia.
What are the symptoms of galactosemia?
Classic galactosemia presents as:
Without treatment, mortality in infants with galactosemia is about 75%.
What are galactosemia care options?
The treatment for galactosemia is the avoidance of all milk and dairy products (eliminating lactose and galactose from the diet). Infants with the condition can be fed soy formula or other lactose-free formulas. Calcium supplementation is also often needed.
Reviewed by: Parul B Jayakar, MD
This page was last updated on: May 22, 2023 11:09 AM