Galactosemia future or investigational therapies: Difference between revisions
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==Future or Investigational Therapies== | ==Future or Investigational Therapies== | ||
The [[therapeutic]] modalities currently being explored are: | The [[therapeutic]] modalities currently being explored are: | ||
* '''[[Aldose]] [[reductase]] [[inhibitors]]'''<ref name="pmid2516529">{{cite journal| author=Lou MF, Dickerson JE, Chandler ML, Brazzell RK, York BM| title=The prevention of biochemical changes in lens, retina, and nerve of galactosemic dogs by the aldose reductase inhibitor AL01576. | journal=J Ocul Pharmacol | year= 1989 | volume= 5 | issue= 3 | pages= 233-40 | pmid=2516529 | doi=10.1089/jop.1989.5.233 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2516529 }} </ref>: They prevent the conversion of [[galactose]] to [[galactitol]], a highly [[osmotically]] active substance <ref name="pmid32314655">{{cite journal| author=Timson DJ| title=Therapies for galactosemia: a patent landscape. | journal=Pharm Pat Anal | year= 2020 | volume= 9 | issue= 2 | pages= 45-51 | pmid=32314655 | doi=10.4155/ppa-2020-0004 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=32314655 }} </ref>. It can accumulate in the [[lens]] causing [[cataract]]<ref name="pmid10915771">{{cite journal| author=Ai Y, Zheng Z, O'Brien-Jenkins A, Bernard DJ, Wynshaw-Boris T, Ning C | display-authors=etal| title=A mouse model of galactose-induced cataracts. | journal=Hum Mol Genet | year= 2000 | volume= 9 | issue= 12 | pages= 1821-7 | pmid=10915771 | doi=10.1093/hmg/9.12.1821 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=10915771 }} </ref>, in the [[brain]] causing [[cerebral]] [[edema]] and [[pseudotumor]] [[cerebri]]<ref name="pmid11174626">{{cite journal| author=Berry GT, Hunter JV, Wang Z, Dreha S, Mazur A, Brooks DG | display-authors=etal| title=In vivo evidence of brain galactitol accumulation in an infant with galactosemia and encephalopathy. | journal=J Pediatr | year= 2001 | volume= 138 | issue= 2 | pages= 260-2 | pmid=11174626 | doi=10.1067/mpd.2001.110423 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11174626 }} </ref>, and also plays a role in [[cognitive]] and [[neurological]] [[symptoms]] of [[galactosemia]]<ref name="pmid7821191">{{cite journal| author=Kamijo M, Basso M, Cherian PV, Hohman TC, Sima AA| title=Galactosemia produces ARI-preventable nodal changes similar to those of diabetic neuropathy. | journal=Diabetes Res Clin Pract | year= 1994 | volume= 25 | issue= 2 | pages= 117-29 | pmid=7821191 | doi=10.1016/0168-8227(94)90037-x | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7821191 }} </ref>. However, the [[therapy]] has been investigated only on animal models (rats and dogs) till now<ref name="pmid9043821">{{cite journal| author=Obrosova I, Faller A, Burgan J, Ostrow E, Williamson JR| title=Glycolytic pathway, redox state of NAD(P)-couples and energy metabolism in lens in galactose-fed rats: effect of an aldose reductase inhibitor. | journal=Curr Eye Res | year= 1997 | volume= 16 | issue= 1 | pages= 34-43 | pmid=9043821 | doi=10.1076/ceyr.16.1.34.5113 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9043821 }} </ref>, and the effect of blocking the [[polyol]] [[pathway]] is still not exactly known. | |||
==References== | ==References== | ||
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
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Overview
Future or Investigational Therapies
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.
References
- ↑ 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.