About Galactosemia

Types of Galactosemia

Three types of galactosemia have been identified

They are caused by a mutation or deletion in the GALT, GALK1, and GALE genes, the ones responsible for making the enzymes that are essential to metabolize galactose.

Picture of a mother with her babies

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.

Diagnosis

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

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.