Department of Pediatrics, Boston Children’s Hospital, Boston, USA
Mini Review
Towards an Advanced Understanding of the Pathogenesis of CNS Complications Associated with Galactosemia: Targeting Galactitol for Pharmacological Intervention with Govorestat, a Novel Aldose-Reductase Inhibitor
Author(s): Riccardo Perfetti*, Susan E Waisbren, Jonathan W Mink, Evan Bailey and Shoshana Shendelman
Galactosemia confers long-term Central Nervous System (CNS) complications and other difficulties in most affected
individuals, despite newborn screening and dietary galactose restriction allowing survival into adulthood. These
complications include speech, cognition, motor, and behavioral deficits, as well as cataracts and ovarian insufficiency
in women. Endogenous synthesis of galactose far exceeds the level achieved through a galactose-restricted diet,
limiting the long-term benefits of dietary control. Thus, an urgent medical need exists for those with this disorder.
Although our understanding of Galactosemia has evolved over the last two decades, its pathophysiology has not been
fully elucidated. Proposed causes of the complex symptomatology include newborn galactose exposure, nonadherence
to the galactose-restricted diet, and Galactose-1-phosphate (Gal-1p) ac.. View More»
DOI:
10.35248/JPR.24.08.220