Abstract
Galactokinase (EC 2.7.1.6) deficiency is a rare disorder of galactose metabolism affecting the conversion of galactose to galactose-l-phosphate (McKusick 23020). This causes an almost total inability to metabolize galactose by the main pathway and, consequently, it accumulates in body fluids and tissues, as does galactitol, a reduction product of galactose. The concentration of the latter compound within the eye lens is thought to produce the nuclear cataracts which are usually noticed in early infancy and are the only clinical manifestation of the disorder.
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© 1988 Springer Science+Business Media Dordrecht
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Allen, J.T., Holton, J.B., Lennox, A.C., Hodges, I.C. (1988). Early Morning Urine Galactitol Levels in Relation to Galactose Intake: A Possible Method of Monitoring the Diet in Galactokinase Deficiency. 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_43
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DOI: https://doi.org/10.1007/978-94-009-1259-5_43
Publisher Name: Springer, Dordrecht
Print ISBN: 978-94-010-7059-1
Online ISBN: 978-94-009-1259-5
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