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001-es BibID:	BIBFORM096401
035-os BibID:	(cikkazonosító)1228 (WoS)000688871400001 (Scopus)85112555088
Első szerző:	Koczok Katalin (labororvos)
Cím:	Biochemical and Clinical Effects of Vitamin E Supplementation in Hungarian Smith-Lemli-Opitz Syndrome Patients / Koczok Katalin, Horváth László, Korade Zeljka, Mezei Zoltán András, P. Szabó Gabriella, Porter Ned A., Kovács Eszter, Mirnics Károly, Balogh István
Dátum:	2021
ISSN:	2218-273X
Megjegyzések:	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 pathophysiology, 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 chromatography (HPLC) method. At baseline, plasma 7-DHC, 8-dehydrocholesterol (8-DHC) and cholesterol levels were determined by liquid chromatography-tandem mass spectrometry (LC-MS/MS) method. The clinical 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 (7.19-15.68 mu mol/L), while vitamin A concentrations were found to be normal or high (1.26-2.68 mu mol/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. Clinical 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.
Tárgyszavak:	Orvostudományok Gyógyszerészeti tudományok idegen nyelvű folyóiratközlemény külföldi lapban folyóiratcikk
Megjelenés:	Biomolecules. - 11 : 8 (2021), p. 1-11. -
További szerzők:	Horváth László (1973-) (gyógyszerész) Korade, Zeljka Mezei Zoltán András (1980-) (orvos) P. Szabó Gabriella (1975-) (csecsemő- és gyermekgyógyász, klinikai genetikus) Porter, Ned A. Kovács Eszter (1994-) (klinikai genetikus) Mirnics Károly Balogh István (1972-) (molekuláris biológus, genetikus)
Pályázati támogatás:	GINOP-2.3.2-15-2016-00039 GINOP K109076 OTKA
Internet cím:	Szerző által megadott URL DOI Intézményi repozitóriumban (DEA) tárolt változat
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