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Plasma polyol levels in patients with cataract
Author(s) -
Jakobs C.,
Douwes A. C.,
Brockstedt M.,
Stellaard F.,
Endres W.,
Shin Y. S.
Publication year - 1990
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf01799509
Subject(s) - polyol , human genetics , medicine , ophthalmology , chemistry , biochemistry , organic chemistry , polyurethane , gene
Summary Galactitol and sorbitol concentrations in plasma were determined in patients (with or without cataract) in whom homo‐ or heterozygosity for galactokinase, galactose‐1‐phosphate uridyltransferase, systemic or peripheral UDP‐galactose epimerase and sorbitol dehydrogenase deficiency was confirmed. For the above disorders it can be concluded that elevation of plasma polyols is not always related to the presence or absence of cataract. In all cases with cataract, however, the plasma galactitol or sorbitol levels were elevated. In another group of patients with unexplained congenital or infantile cataracts, but without apparent enzyme defects, mild to moderately elevated concentrations of plasma galactitol or sorbitol were found in about 45%. In 8% of this group the cataract and the elevated plasma galactitol concentration could possibly have been related to partial maternal enzyme deficiency. In all the other cases the elevated plasma polyol concentration remains unexplained but could indicate a further cause of cataract formation due to a hitherto unknown galactose or glucose metabolic aberration.