About Galactosemia

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.

Galactosemia is classified as an orphan disease because it is so rare, impacting 1 in 30,000 - 70,000. There is not a lot of research on the disease and there is currently no drug to treat it.

The amount of information you’ll find on the internet can be scary and much of it is outdated because the dietary guidelines have changed over the years as more is learned through research.

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.

History of Galactosemia

First discovered in 1908, Galactosemia is a rare condition where the body has trouble breaking down a sugar called “galactose.”