Sorbitol Dehydrogenase Deficiency in a Family with Congenital Cataracts View Full Text


Ontology type: schema:Chapter     


Chapter Info

DATE

1984

AUTHORS

Y. S. Shin , M. Rieth , W. Endres , P. Haas

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. More... »

PAGES

151-152

References to SciGraph publications

Book

TITLE

Organic Acidurias

ISBN

978-94-010-8975-3
978-94-009-5612-4

Author Affiliations

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/978-94-009-5612-4_50

DOI

http://dx.doi.org/10.1007/978-94-009-5612-4_50

DIMENSIONS

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