Koczok, Katalin; Horvath, Laszlo; Korade, Zeljka; Mezei, Zoltan Andras; Szabo, Gabriella P.; Porter, Ned A.; Kovacs, Eszter; Mirnics, Karoly; Balogh, Istvan published the artcile< Biochemical and Clinical Effects of Vitamin E Supplementation in Hungarian Smith-Lemli-Opitz Syndrome Patients>, Quality Control of 434-16-2, the main research area is vitamin E Hungarian Smith Lemli Opitz syndrome skin photosensitivity; Smith-Lemli-Opitz syndrome; behavioral disturbance; skin photosensitivity; vitamin A; vitamin E.
Smith-Lemli-Opitz syndrome (SLOS) is a severe monogenic disorder resulting in low cholesterol and high 7-dehydrocholesterol (7-DHC) levels. 7-DHC-derived oxysterols likely contribute to disease pathophysiol., and thus antioxidant treatment might be beneficial because of high oxidative stress. In a three-year prospective study, we investigated the effects of vitamin E supplementation in six SLOS patients already receiving dietary cholesterol treatment. Plasma vitamin A and E concentrations were determined by the high-performance liquid chromatog. (HPLC) method. At baseline, plasma 7-DHC, 8-dehydrocholesterol (8-DHC) and cholesterol levels were determined by liquid chromatog.-tandem mass spectrometry (LC-MS/MS) method. The clin. effect of the supplementation was assessed by performing structured parental interviews. At baseline, patients were characterized by low or low-normal plasma vitamin E concentrations (7.19-15.68μmol/L), while vitamin A concentrations were found to be normal or high (1.26-2.68μmol/L). Vitamin E supplementation resulted in correction or significant elevation of plasma vitamin E concentration in all patients. We observed reduced aggression, self-injury, irritability, hyperactivity, attention deficit, repetitive behavior, sleep disturbance, skin photosensitivity and/or eczema in 3/6 patients, with notable individual variability. Clin. response to therapy was associated with a low baseline 7-DHC + 8-DHC/cholesterol ratio (0.2-0.4). We suggest that determination of vitamin E status is important in SLOS patients. Supplementation of vitamin E should be considered and might be beneficial.
Biomolecules published new progress about Antioxidants. 434-16-2 belongs to class alcohols-buliding-blocks, and the molecular formula is C27H44O, Quality Control of 434-16-2.
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