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Article

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

Journal of inherited metabolic disease - 1 May 2020

Haskovic Minela, Coelho Ana I, Bierau Jörgen, Vanoevelen Jo M, Steinbusch Laura K M, Zimmermann Luc J I, Villamor-Martinez Eduardo, Berry Gerard T, Rubio-Gozalbo M Estela

Abstract excerpt

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...

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Identifiers

PMID: 31808946
DOI: 10.1002/jimd.12202
PMCID: PMC7317974

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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