Galactosemia medical therapy: Difference between revisions
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==Medical Therapy== | ==Medical Therapy== | ||
The main [[medical]] [[treatments]] currently being explored are: | The main [[medical]] [[treatments]] currently being explored are: | ||
===[[Galactokinase]] 1 ([[GALK1]]) [[inhibitors]]<ref name="pmid12705493">{{cite journal| author=Bosch AM, Bakker HD, van Gennip AH, van Kempen JV, Wanders RJ, Wijburg FA| title=Clinical features of galactokinase deficiency: a review of the literature. | journal=J Inherit Metab Dis | year= 2002 | volume= 25 | issue= 8 | pages= 629-34 | pmid=12705493 | doi=10.1023/a:1022875629436 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12705493 }} </ref> | |||
===[[Galactokinase]] 1 ([[GALK1]]) [[inhibitors]]===<ref name="pmid12705493">{{cite journal| author=Bosch AM, Bakker HD, van Gennip AH, van Kempen JV, Wanders RJ, Wijburg FA| title=Clinical features of galactokinase deficiency: a review of the literature. | journal=J Inherit Metab Dis | year= 2002 | volume= 25 | issue= 8 | pages= 629-34 | pmid=12705493 | doi=10.1023/a:1022875629436 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12705493 }} </ref>: These compounds reduce the accumulation of [[Galactose-1-phosphate]], the major mediator of the [[pathogenic]] effects of [[GALT]] [[deficiency]] [[galactosemia]]<ref name="pmid31808946">{{cite journal| author=Haskovic M, Coelho AI, Bierau J, Vanoevelen JM, Steinbusch LKM, Zimmermann LJI | display-authors=etal| title=Pathophysiology and targets for treatment in hereditary galactosemia: A systematic review of animal and cellular models. | journal=J Inherit Metab Dis | year= 2020 | volume= 43 | issue= 3 | pages= 392-408 | pmid=31808946 | doi=10.1002/jimd.12202 | pmc=7317974 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=31808946 }} </ref>. Moreover, [[GALK1]] is highly [[substrate]] specific, thereby eliminating undesirable [[interactions]]<ref name="pmid20696150">{{cite journal| author=Tang M, Wierenga K, Elsas LJ, Lai K| title=Molecular and biochemical characterization of human galactokinase and its small molecule inhibitors. | journal=Chem Biol Interact | year= 2010 | volume= 188 | issue= 3 | pages= 376-85 | pmid=20696150 | doi=10.1016/j.cbi.2010.07.025 | pmc=2980576 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=20696150 }} </ref>. | |||
==References== | ==References== | ||
Revision as of 09:24, 5 July 2022
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Sujaya Chattopadhyay, M.D.[2]
Overview
Medical Therapy
The main medical treatments currently being explored are:
===Galactokinase 1 (GALK1) inhibitors===[1]: These compounds reduce the accumulation of Galactose-1-phosphate, the major mediator of the pathogenic effects of GALT deficiency galactosemia[2]. Moreover, GALK1 is highly substrate specific, thereby eliminating undesirable interactions[3].
References
- ↑ Bosch AM, Bakker HD, van Gennip AH, van Kempen JV, Wanders RJ, Wijburg FA (2002). "Clinical features of galactokinase deficiency: a review of the literature". J Inherit Metab Dis. 25 (8): 629–34. doi:10.1023/a:1022875629436. PMID 12705493.
- ↑ Haskovic M, Coelho AI, Bierau J, Vanoevelen JM, Steinbusch LKM, Zimmermann LJI; et al. (2020). "Pathophysiology and targets for treatment in hereditary galactosemia: A systematic review of animal and cellular models". J Inherit Metab Dis. 43 (3): 392–408. doi:10.1002/jimd.12202. PMC 7317974 Check
|pmc=value (help). PMID 31808946. - ↑ Tang M, Wierenga K, Elsas LJ, Lai K (2010). "Molecular and biochemical characterization of human galactokinase and its small molecule inhibitors". Chem Biol Interact. 188 (3): 376–85. doi:10.1016/j.cbi.2010.07.025. PMC 2980576. PMID 20696150.