Racial diversity and the S135L variant in galactosemia

Professor Judy Fridovich-Keil returns to the podcast to explain gaps in research data around the S135L variant in classic galactosemia and why current data sets may not not truly reflect the international experience of galactosemia. A multinational study of acute and long-term outcomes of Type 1 galactosemia patients who carry the S135L (c.404C > T) variant of GALT Quinton S. Katler, et al https://doi.org/10.1002/jimd.12556 Racial and ethnic diversity of classic and clinical variant galactosemia in the United States Stettner et al https://doi.org/10.1016/j.ymgme.2023.107542