Galactosemia future or investigational therapies

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

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Overview

The therapeutic modalities currently being explored are:

Aldose reductase inhibitors^[1]: They prevent the conversion of galactose to galactitol, a highly osmotically active substance ^[2]. It can accumulate in the lens causing cataract^[3], in the brain causing cerebral edema and pseudotumor cerebri^[4], and also plays a role in cognitive and neurological symptoms of galactosemia^[5]. However, the therapy has been investigated only on animal models (rats and dogs) till now^[6], and the effect of blocking the polyol pathway is still not exactly known.

↑ Lou MF, Dickerson JE, Chandler ML, Brazzell RK, York BM (1989). "The prevention of biochemical changes in lens, retina, and nerve of galactosemic dogs by the aldose reductase inhibitor AL01576". J Ocul Pharmacol. 5 (3): 233–40. doi:10.1089/jop.1989.5.233. PMID 2516529.
↑ Timson DJ (2020). "Therapies for galactosemia: a patent landscape". Pharm Pat Anal. 9 (2): 45–51. doi:10.4155/ppa-2020-0004. PMID 32314655 Check |pmid= value (help).
↑ Ai Y, Zheng Z, O'Brien-Jenkins A, Bernard DJ, Wynshaw-Boris T, Ning C; et al. (2000). "A mouse model of galactose-induced cataracts". Hum Mol Genet. 9 (12): 1821–7. doi:10.1093/hmg/9.12.1821. PMID 10915771.
↑ Berry GT, Hunter JV, Wang Z, Dreha S, Mazur A, Brooks DG; et al. (2001). "In vivo evidence of brain galactitol accumulation in an infant with galactosemia and encephalopathy". J Pediatr. 138 (2): 260–2. doi:10.1067/mpd.2001.110423. PMID 11174626.
↑ Kamijo M, Basso M, Cherian PV, Hohman TC, Sima AA (1994). "Galactosemia produces ARI-preventable nodal changes similar to those of diabetic neuropathy". Diabetes Res Clin Pract. 25 (2): 117–29. doi:10.1016/0168-8227(94)90037-x. PMID 7821191.
↑ Obrosova I, Faller A, Burgan J, Ostrow E, Williamson JR (1997). "Glycolytic pathway, redox state of NAD(P)-couples and energy metabolism in lens in galactose-fed rats: effect of an aldose reductase inhibitor". Curr Eye Res. 16 (1): 34–43. doi:10.1076/ceyr.16.1.34.5113. PMID 9043821.