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The authors reported a mean CUMPCD of 0.39% at 120 min in a group of galactosemic children 1 month to 12 years of age, whereas the corresponding values in 2- and 14-day-old neonates without the disease were 4.4 and 9.96%, respectively.
Hence, treated galactosemic children must have a smaller amount of unlabeled galactose than untreated children (15).
Onset and Formation of Galactosemic Cataract in Rats.
The maximal ratio of galactosemic rats was 5.51 x [10.sup.-4] on the 6th day, but the normal level was only 2.76 x [10.sup.-4]; the control ratio was still higher (2.76 x [10.sup.-4]) than the normal level (1.98 x [10.sup.-4]) at the end of day 18.
This finding raises the question of the efficacy of measuring galactitol in spot urine for monitoring metabolic control in DG galactosemics.
In healthy individuals and DG galactosemics, RBC concentrations of galactonate were higher than for galactitol; however, these investigators reported the opposite finding in patients with classic galactosemia: RBC concentrations of galactitol higher than for galactonate (10).
The ratio of lens weight to body weight was the key parameter of lens osmotic expansion in this galactosemic cataract model.
AR has higher affinity to galactose than to glucose; the metabolite galactitol is more poorly reduced by SDH than sorbitol, and it takes shorter time to form rat galactosemic cataract model than another one [3, 4, 18].
As shown in the analysis of 33 classical galactosemic samples, none showed any residual activity.
Indeed, Gal-1-P has been the most frequently measured galactose metabolite, and its assessment in RBCs is routine in the clinical management of galactosemic patients.
This raises the question of whether tandem MS will be able to detect galactosemic samples obtained at earlier postnatal ages than those used for this study.
In galactosemic patients exhibiting higher plasma concentrations of D-galactose, the mean apparent overestimation was still ~3-fold.