Plasma polyol levels in patients with cataract

Journal of Inherited Metabolic Disease
C JakobsY S Shin

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.

References

Jan 3, 1977·Clinica Chimica Acta; International Journal of Clinical Chemistry·Y S Shin-BuehringJ Schaub
Aug 2, 1976·Clinica Chimica Acta; International Journal of Clinical Chemistry·Y Shin-BühringJ Schaub
May 1, 1986·Archives of Disease in Childhood·M BrivetJ L Dufier
Mar 1, 1988·Survey of Ophthalmology·D Stambolian
May 1, 1983·Archives of Disease in Childhood·A F WinderJ N Mount
Nov 1, 1981·Archives of Disease in Childhood·J B HoltonR Young

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Citations

Jan 1, 1990·Journal of Inherited Metabolic Disease·W Endres, Y S Shin
May 1, 1995·European Journal of Pediatrics·V Vetter, Y S Shin
Mar 1, 1997·Journal of Inherited Metabolic Disease·W Endres

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