Abstract
Two male patients in a family with congenital cataracts were found to have a deficient sorbitol dehydrogenase (SD) activity in erythrocytes (J. Inher. Metab. Dis. 7 Suppl. 2, 151, 1984). The concentrations of sorbitol and galactitol were determined by a stable isotope dilution assay using gas chromatography-mass spectrometry (Pediatr. Res. 18, 714, 1984). The sorbitol level was elevated significantly in plasma of the patients (5.58 and 12.98 μmol/L compared to the normal values (0.60-1.84, n=16). On the other hand the galactitol concentration in plasma was in the normal range (0.08-0.40 μmol/L). The elevation in sorbitol is comparable to that in diabetes where the accumulation of sorbitol in the lens and peripheral nerves is considered to contribute to cataract and neuropathy development. The patients, however, do not show any neuropathy but severe neonatal cataracts. This difference may be explained by tissue specific isoenzymes of SD and aldose reductase. Further studies with SD from sheep liver and erythrocytes showed that galactose, galactitol and galactose-1-phosphate have no effect on SD, while xylitol inhibits and xylulose activates SD.
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Shin, Y., Endres, W., Schmid, KM. et al. ELEVATED PLASMA SORBITOL LEVELS IN CATARACT PATIENTS WITH SORBITOL DEHYDROGENASE DEFICIENCY. Pediatr Res 19, 1082 (1985). https://doi.org/10.1203/00006450-198510000-00088
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DOI: https://doi.org/10.1203/00006450-198510000-00088
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