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13-09-2023 | Galactosemia | Review Article

Classical Hereditary galactosemia: findings in patients and animal models

Authors: Lucas Ferreira Teixeira, Gustavo R. Krupp Prauchner, Darlan Gusso, Angela T.S. Wyse

Published in: Metabolic Brain Disease | Issue 1/2024

Abstract

Classic galactosemia is a rare inborn error of metabolism that affects the metabolism of galactose, a sugar derived from milk and derivates. Classic galactosemia is caused by variants of the GALT gene, which lead to absent or misfolded forms of the ubiquitously present galactose-1-phosphate uridylyltransferase enzyme (GALT) driving galactose metabolites to accumulate, damaging cells from neurons to hepatocytes. The disease has different prevalence around the world due to different allele frequencies among populations and its symptoms range from cognitive and psychomotor impairment to hepatic, ophthalmological, and bone structural damage. The practice of newborn screening still varies among countries, dairy restriction treatment is a consensus despite advances in preclinical treatment strategies. Recent clinical studies in Duarte variant suggest dairy restriction could be reconsidered in these cases. Despite noteworthy advances in the classic galactosemia understanding, preclinical trials are still crucial to fully understand the pathophysiology of the disease and help propose new treatments. This review aims to report a comprehensive analysis of past studies and state of art research on galactosemia screening, its clinical and preclinical trials, and treatments with the goal of shedding light on this complex and multisystemic innate error of the metabolism.

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Title: Classical Hereditary galactosemia: findings in patients and animal models
Authors: Lucas Ferreira Teixeira
Gustavo R. Krupp Prauchner
Darlan Gusso
Angela T.S. Wyse
Publication date: 13-09-2023
Publisher: Springer US
Keywords: Galactosemia
Neonatal Screening
Published in: Metabolic Brain Disease / Issue 1/2024
Print ISSN: 0885-7490
Electronic ISSN: 1573-7365
DOI: https://doi.org/10.1007/s11011-023-01281-9

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Classical Hereditary galactosemia: findings in patients and animal models

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