Journal of Pharmacological Reports
Open Access

Department of Pediatrics, Boston Children’s Hospital, Boston, USA

Publications

• 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

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