Oxysterol changes along with cholesterol and vitamin D changes in adult phenylketonuric patients diagnosed by newborn mass-screening.
Oxysterol changes along with cholesterol and vitamin D changes in adult phenylketonuric patients diagnosed by newborn mass-screening.
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DOI：
10.1016/j.cca.2012.10.011
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发表时间：
2013-02
期刊：
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通讯作者：
H. Nagasaka;Y. Okano;A. Kimura;T. Mizuochi;Yoshitami Sanayama;Tomozumi Takatani;S. Nakagawa;Eri Hasegawa;K. Hirano;H. Mochizuki;T. Ohura;Mika Ishige-Wada;H. Usui;T. Yorifuji;H. Tsukahara;S. Hirayama;A. Ohtake;S. Yamato;T. Miida
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作者：
H. Nagasaka;Y. Okano;A. Kimura;T. Mizuochi;Yoshitami Sanayama;Tomozumi Takatani;S. Nakagawa;Eri Hasegawa;K. Hirano;H. Mochizuki;T. Ohura;Mika Ishige-Wada;H. Usui;T. Yorifuji;H. Tsukahara;S. Hirayama;A. Ohtake;S. Yamato;T. Miida
背景苯丙酮尿症(PKU)可能导致低胆固醇血症和维生素D(VD)状态降低。方法对33例21~38岁的PKU成人和20例年龄相匹配的健康对照组进行了氧固醇、苯丙氨酸、血脂和VD的检测。结果与对照组相比，PKU组总胆固醇、低密度胆固醇和25-羟基VD3显著降低(胆固醇降低10%；25-羟基VD335%降低)。24S-羟基胆固醇(24S-OHC)清除脑胆固醇，27-OHC和7α-羟基胆固醇(7α-OHC)分别代表外周和肝脏胆固醇清除，北京大学组显著降低：24S-OHC，下降25%，P<0.01；27-OHC，7α-OHC，下降35-40%，P<；.001。反映氧化应激的7β-羟基胆固醇(7β-OHC)在PKU组显著升高(p<；0.05)。7α-OHC和27-OHC水平在PKU组无其他参数变化，而24S-OHC和7β-OHC水平分别降低和升高，与苯丙氨酸水平显著相关(p<；0.005)。本组患者27-OHC水平与25-羟基VD3水平呈显著正相关(p<；.001)。结论成人PKU患者血胆固醇的变化主要以血氧饱和度的变化为主，并影响其对VD的影响。
BACKGROUNDPhenylketonuria (PKU) possibly leads to hypocholesterolemia and lowered vitamin D (VD) status. Metabolism of oxysterols linking with those of cholesterol and VD has never been examined in PKU.METHODSBlood oxysterols along with blood phenylalanine, lipids and VD were examined for 33 PKU adults aged 21–38years and 20 age-matched healthy controls.RESULTSTotal- and low-density cholesterols, and 25-hydroxy VD3were decreased significantly in the PKU group (cholesterols, 10% decrease; 25-hydroxy VD335% decrease vs. the control group). 24S-hydroxycholesterol (24S-OHC) eliminating brain cholesterol, and 27-OHC and 7α-hydroxycholesterol (7α-OHC) representing peripheral and hepatic cholesterol elimination, respectively, were significantly decreased in PKU group: 24S-OHC, 25% decrease, p<.01; 27-OHC and 7α-OHC, 35–40% decrease, p<.001. 7β-Hydroxycholesterol (7β-OHC) reflecting oxidative stress was increased significantly in PKU group (p<.05). 7α-OHC and 27-OHC levels in PKU group always showed similar values, regardless of other parameters while the 24S-OHC and 7β-OHC levels decreased and increased, respectively, showing significant correlations with phenylalanine level (p<.005). 27-OHC level showed a significant positive correlation with the 25-hydroxy VD3level in this group (p<.001).CONCLUSIONBlood oxysterol changes predominate over blood cholesterol changes and influence on VD status in adult PKU patients.