title: Plasma polyol levels in patients with cataract.
abstract: 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.
authors.affiliation: Department of Paediatrics, Free University Hospital, Amsterdam, The Netherlands.
authors.forename: C
authors.initials: C
authors.lastname: Jakobs
authors.forename: A C
authors.initials: AC
authors.lastname: Douwes
authors.forename: M
authors.initials: M
authors.lastname: Brockstedt
authors.forename: F
authors.initials: F
authors.lastname: Stellaard
authors.forename: W
authors.initials: W
authors.lastname: Endres
authors.forename: Y S
authors.initials: YS
authors.lastname: Shin
mesh_terms: D002238:Carbohydrate Epimerases / Q000172:deficiency / Q000235:genetics; D002386:Cataract / Q000097:blood*; D002675:Child, Preschool; D004376:Galactitol / Q000097:blood / Q000378:metabolism; D005686:Galactokinase / Q000172:deficiency / Q000235:genetics; D005690:Galactose / Q000378:metabolism*; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D009154:Mutation; D011108:Polymers / Q000378:metabolism*; D013012:Sorbitol / Q000097:blood / Q000378:metabolism; D014534:UDPglucose 4-Epimerase; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase / Q000172:deficiency / Q000235:genetics
chemical_list: D011108:Polymers; C024617:polyol; D004376:Galactitol; D013012:Sorbitol; D005686:Galactokinase; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase; D002238:Carbohydrate Epimerases; D014534:UDPglucose 4-Epimerase; C020551:galactose epimerase; D005690:Galactose