Current and Future Treatments for Classic Galactosemia

Overview

Journal J Pers Med

Date 2021 Feb 2

PMID 33525536

Citations 16

Authors

Britt Delnoy

Ana I Coelho

Maria Estela Rubio-Gozalbo

Affiliations

Soon will be listed here.

Abstract

Type I (classic) galactosemia, galactose 1-phosphate uridylyltransferase (GALT)-deficiency is a hereditary disorder of galactose metabolism. The current therapeutic standard of care, a galactose-restricted diet, is effective in treating neonatal complications but is inadequate in preventing burdensome complications. The development of several animal models of classic galactosemia that (partly) mimic the biochemical and clinical phenotypes and the resolution of the crystal structure of GALT have provided important insights; however, precise pathophysiology remains to be elucidated. Novel therapeutic approaches currently being explored focus on several of the pathogenic factors that have been described, aiming to (i) restore GALT activity, (ii) influence the cascade of events and (iii) address the clinical picture. This review attempts to provide an overview on the latest advancements in therapy approaches.

Citing Articles

Unusual Presentation of Classical Galactosemia: A Case Report of Iranian Experience.

Alaee M, Saneifard H, Shakiba M, Hanifeh M, Moarefian S Clin Case Rep. 2025; 13(2):e70170.

PMID: 39973892 PMC: 11835960. DOI: 10.1002/ccr3.70170.

Emergency Management of Intoxication-Type Inherited Metabolic Disorders.

Tarr J, Morris A J Inherit Metab Dis. 2025; 48(2):e70007.

PMID: 39953653 PMC: 11828970. DOI: 10.1002/jimd.70007.

Improvement of Mutant Galactose-1-Phosphate Uridylyltransferase (GALT) Activity by FDA-Approved Pharmacochaperones: A Preliminary Study.

Scafuri B, Piscosquito S, Giliberti G, Facchiano A, Miner J, Balakrishnan B Int J Mol Sci. 2025; 26(3).

PMID: 39940658 PMC: 11816840. DOI: 10.3390/ijms26030888.

Assessment of Long-Term Safety and Efficacy of Purple Sweet Potato Color (PSPC) and Myo-Inositol (MI) Treatment for Motor Related and Behavioral Phenotypes in a Mouse Model of Classic Galactosemia.

Bellagamba O, Guo A, Senthilkumar S, Lillevik S, De Biase D, Lai K J Inherit Metab Dis. 2025; 48(2):e70002.

PMID: 39894675 PMC: 11788002. DOI: 10.1002/jimd.70002.

Primary ovarian insufficiency in Classic Galactosemia: a systematic review.

Candela E, Montanari G, Di Blasi E, Baronio F, Cassio A, Ortolano R J Endocrinol Invest. 2025; .

PMID: 39821528 DOI: 10.1007/s40618-024-02527-8.

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