Abstract
UDP-galactose-4-epimerase (EC 5.1.3.2) is a key enzyme in the metabolic route by which man metabolises galactose to produce glucose. Its absence will impair the continual action of galactose-1-phosphate uridyl transferase as this enzyme depends upon a constant regeneration of UDP-glucose catalysed by the action of epimerase. In addition a lack of endogenous synthesis of UDP-galactose will prevent the normal production of galactocerebroside.
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References
Gitzelman, R. Deficiency of uridine diphosphate galactose 4-epimerase in blood cells of an apparently healthy infant. Helvet. Pediatr. Acta 27 (1972) 125–130
Holton, J. B., Gillett, M. G., MacFaul, R. and Young, R. Galactosaemia: A new severe variant due to uridine diphosphate galactose-4-epimerase deficiency. Arch. Dis. Child. 56 (1981) 885–887
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© 1988 Springer Science+Business Media Dordrecht
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Sardharwalla, I.B., Wraith, J.E., Bridge, C., Fowler, B., Roberts, S.A. (1988). A Patient with Severe Type of Epimerase Deficiency Galactosaemia. In: Pollitt, R.J., Harkness, R.A., Addison, G.M. (eds) Studies in Inherited Metabolic Disease. Springer, Dordrecht. https://doi.org/10.1007/978-94-009-1259-5_45
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DOI: https://doi.org/10.1007/978-94-009-1259-5_45
Publisher Name: Springer, Dordrecht
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