Our foundation advocates for people with Galactosemia and their families. We connect families and support networking efforts between clinicians and researchers.Get Involved
Galactosemia is a disorder caused by a genetic mutation that affects how galactose is broken down in the metabolic pathway.
Whether your child was recently diagnosed or just trying to learn more about galactosemia, you’ve come to the right place.
Babies are first diagnosed with galactosemia during the newborn screening process, which is done in all 50 states.Newborns
Around this age, you may see early signs of developmental delays and speech problems.Learn More
Because galactosemia can impact how a child learns, they may need more support in school. Developmental delays may become more noticeable as your child begins school.Learn More
The teenage years aren’t particularly easy on anyone, but they can be especially tough for teens with galactosemia. While they are growing and working to find their place in the world, they may feel restricted by their galactosemia diagnosis, due to complications they experience and/or food restrictions.Learn More
Because galactosemia impacts everyone differently, some young adults will complete college and/or obtain stable employment. Others may have a hard time living independently because of worsening or new long-term complications.Learn More
Galactosemia Foundation Urges FDA to Incorporate Voice of the Patient in Review of Potential First Treatment for Children with Life-Altering Rare Disease
Applied Therapeutics Announces Clinical Benefit of Govorestat (AT-007) in ACTION-Galactosemia Kids Trial; Company Plans to Meet with FDA Regarding Potential NDA Submission
Applied Pressure: After Regulatory Redirect, Mixed Trial Results Pose Challenges for Drugmaker and Patient Group