Galactosemia medical therapy
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Sujaya Chattopadhyay, M.D.[2]
Medical Therapy
Medical Therapy
The main medical treatments currently being applied 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
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.
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