Galactosemia: Epimerase-Deficiency Research Study
Our lab is conducting research to better understand epimerase-deficient galactosemia. The research study utilizes both biochemical and genetic analyses to investigate why some patients with galactosemia are more severely affected than others, what different types of mutations cause galactosemia, and how specific mutations may influence patient outcome.
The majority of patients with epimerase-deficient galactosemia have enzyme impairment that is restricted to the circulating red and white blood cells (known as "peripheral"), while others demonstrate a more generalized enzyme impairment evident in many non-peripheral tissues, such as fibroblasts or lymphoblasts. While patients with fully peripheral epimerase deficiency are generally asymptomatic, and patients with marked impairment in multiple tissues can be severely affected, the clinical ramification of partial epimerase deficiency in the non-peripheral tissues remains an open question. Our research is designed to address this question.
Who can participate in our research?
We are recruiting interested patients diagnosed with epimerase-deficient (GALE-deficiency) galactosemia and their parents.
How do I learn more information?
Please contact the following individual for more information:
Dr. Judith L. Fridovich-Keil
Department of Human Genetics