Abstract
Cataract is one of the important clinical manifestations of galactosaemia due to galactokinase or galactose-1-phosphate uridyltransferase deficiency. It has been known that the accumulation of polyols, sorbitol or galactitol in a lens plays a key role in the formation of diabetic and galactosaemic cataracts (van Heyningen, 1976). It is also well established that the sorbitol pathway involving aldolase reductase (EC 1.1.1.21) and sorbitol dehydrogenase (EC 1.1.1.14) is important in cataract formation (Varma et al., 1977). Recently Vaca et al. (1982) reported the first case of red cell sorbitol dehydrogenase deficiency in a family with cataracts. Therefore we have decided to determine the sorbitol dehydrogenase activity in erythrocytes in addition to galactokinase, galactose-1-phosphate uridyltransferase and UDP-galactose epimerase activities in a selected population with congenital cataracts.
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© 1984 SSIEM and MTP Press Limited, Queen Square, Lancaster
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Shin, Y.S., Rieth, M., Endres, W., Haas, P. (1984). Sorbitol Dehydrogenase Deficiency in a Family with Congenital Cataracts. In: Addison, G.M., Chalmers, R.A., Divry, P., Harkness, R.A., Pollitt, R.J. (eds) Organic Acidurias. Springer, Dordrecht. https://doi.org/10.1007/978-94-009-5612-4_50
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DOI: https://doi.org/10.1007/978-94-009-5612-4_50
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