Galactosemia Research Study

Classic galactosemia is an inborn error of metabolism that impacts about 1:50,000 babies born each year in the US and many other countries. Neonatal identification by newborn screening, coupled with rapid and life-long dietary restriction of galactose, generally achieved by switching the baby from breast milk or dairy milk formula to a low-galactose formula, prevents the potentially lethal acute symptoms of the disease. However, despite this early identification and intervention, which is the current standard of care, most children with classic galactosemia grow to experience a constellation of long-term developmental and other complications. At present, there is no known treatment that prevents, resolves, or even minimizes the long-term complications of classic galactosemia.

Our goal is to change that. Our research includes both a large human subjects study and also studies involving animal models of GALT deficiency. Specifically, our study with human volunteers is longitudinal, non-invasive, and essential to learn about the presentation and progression of the long-term complications we are trying to prevent or reverse.

We invite all people with classic galactosemia, from newborns to adults, to join our IRB-approved research study (Emory IRB 00024933; PI: JL Fridovich-Keil). Unaffected siblings are also recruited to serve as controls for the study. We use animal models of classic galactosemia to study mechanism and test novel candidate interventions.