Bianca Panis, E Naomi Vos, Ivo Barić, Annet M Bosch, Martijn C G J Brouwers, Alberto Burlina, David Cassiman, David J Coman, María L Couce, Anibh M Das, Didem Demirbas, Aurélie Empain, Matthias Gautschi, Olga Grafakou, Stephanie Grunewald, Sandra D K Kingma, Ina Knerr, Elisa Leão-Teles, Dorothea Möslinger, Elaine Murphy, Katrin Õunap, Adriana Pané, Sabrina Paci, Rossella Parini, Isabel A Rivera, Sabine Scholl-Bürgi, Ida V D Schwartz, Triantafyllia Sdogou, Loai A Shakerdi, Anastasia Skouma, Karolina M Stepien, Eileen P Treacy, Susan Waisbren, Gerard T Berry, M Estela Rubio-Gozalbo
Classic galactosemia (CG, OMIM #230400, ORPHA: 79,239) is a hereditary disorder of galactose metabolism that, despite treatment with galactose restriction, affects brain function in 85% of the patients. Problems with cognitive function, neuropsychological/social emotional difficulties, neurological symptoms, and abnormalities in neuroimaging and electrophysiological assessments are frequently reported in this group of patients, with an enormous individual variability. In this review, we describe the role of impaired galactose metabolism on brain dysfunction based on state of the art knowledge...
2024: Frontiers in Genetics