| Autor: |
Delnoy B; Department of Pediatrics, Maastricht University Medical Centre, 6229 HX Maastricht, The Netherlands.; Department of Clinical Genetics, Maastricht University Medical Centre+, 6229 HX Maastricht, The Netherlands.; GROW-School for Oncology and Developmental Biology, Maastricht University, 6229 HX Maastricht, The Netherlands., Coelho AI; Department of Pediatrics, Maastricht University Medical Centre, 6229 HX Maastricht, The Netherlands., Rubio-Gozalbo ME; Department of Pediatrics, Maastricht University Medical Centre, 6229 HX Maastricht, The Netherlands.; Department of Clinical Genetics, Maastricht University Medical Centre+, 6229 HX Maastricht, The Netherlands.; GROW-School for Oncology and Developmental Biology, Maastricht University, 6229 HX Maastricht, The Netherlands. |
| Abstrakt: |
Type I (classic) galactosemia, galactose 1-phosphate uridylyltransferase (GALT)-deficiency is a hereditary disorder of galactose metabolism. The current therapeutic standard of care, a galactose-restricted diet, is effective in treating neonatal complications but is inadequate in preventing burdensome complications. The development of several animal models of classic galactosemia that (partly) mimic the biochemical and clinical phenotypes and the resolution of the crystal structure of GALT have provided important insights; however, precise pathophysiology remains to be elucidated. Novel therapeutic approaches currently being explored focus on several of the pathogenic factors that have been described, aiming to (i) restore GALT activity, (ii) influence the cascade of events and (iii) address the clinical picture. This review attempts to provide an overview on the latest advancements in therapy approaches. |
