Pathophysiology and targets for treatment in hereditary galactosemia: A systematic review of animal and cellular models.

ABSTRACT: Since the first description of galactosemia in 1908 and despite decades of research, the pathophysiology is complex and not yet fully elucidated. Galactosemia is an inborn error of carbohydrate metabolism caused by deficient activity of any of the galactose metabolising enzymes. The current standard of care, a galactose-restricted diet, fails to prevent long-term complications. Studies in cellular and animal models in the past decades have led to an enormous progress and advancement of knowledge. Summarising current evidence in the pathophysiology underlying hereditary galactosemia may contribute to the identification of treatment targets for alternative therapies that may successfully prevent long-term complications. A systematic review of cellular and animal studies reporting on disease

SUBMITTER: Haskovic M 

PROVIDER: S-EPMC7317974 | biostudies-literature | 2020 May

REPOSITORIES: biostudies-literature