Galactosemia is a rare genetic disease that affects the body’s ability to metabolize galactose, a sugar produced at low levels in all human cells that is also found at high levels in milk and dairy products. Currently, no treatments exist for galactosemia, which is fatal in infants if undiagnosed; early identification through newborn screening and prompt initiation of a restricted diet can prevent the most severe consequences of the disease. However, despite strict dietary control, patients with galactosemia often suffer from serious long-term consequences of disease. These complications, which frequently include cataracts, cognitive, speech, and behavioral disabilities, neurological and motor problems, and premature ovarian insufficiency in women, significantly diminish patients’ health and quality of life.
Applied Therapeutics recognizes the urgent need to develop safe and effective treatments to prevent or reverse consequences of galactosemia. We are hopeful that our work will provide new therapeutic options for patients with galactosemia.
For more information about galactosemia, please visit the Galactosemia Foundation website or the National Organization for Rare Disease (NORD) website.