Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Galactosemia medical therapy
Introduction
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.
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Sujaya Chattopadhyay, M.D.[2]