Oxysterol changes along with cholesterol and vitamin D changes in adult phenylketonuric patients diagnosed by newborn mass-screening

Hironori Nagasaka, Yoshiyuki Okano, Akihiko Kimura, Tatsuki Mizuochi, Yoshitami Sanayama, Tomozumi Takatani, Saori Nakagawa, Eri Hasegawa, Ken ichi Hirano, Hiroshi Mochizuki, Toshihiro Ohura, Mika Ishige-Wada, Hiromi Usui, Tohru Yorifuji, Hirokazu Tsukahara, Satoshi Hirayama, Akira Ohtake, Susumu Yamato, Takashi Miida

Research output: Contribution to journalArticlepeer-review

11 Citations (Scopus)


Background: Phenylketonuria (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. Methods: Blood oxysterols along with blood phenylalanine, lipids and VD were examined for 33 PKU adults aged 21-38. years and 20 age-matched healthy controls. Results: Total- and low-density cholesterols, and 25-hydroxy VD3 were decreased significantly in the PKU group (cholesterols, 10% decrease; 25-hydroxy VD3 35% 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 VD3 level in this group (p<.001). Conclusion: Blood oxysterol changes predominate over blood cholesterol changes and influence on VD status in adult PKU patients.

Original languageEnglish
Pages (from-to)54-59
Number of pages6
JournalClinica Chimica Acta
Publication statusPublished - Feb 1 2013


  • Cholesterol
  • Oxysterols
  • Phenylalanine
  • Vitamin D

ASJC Scopus subject areas

  • Biochemistry
  • Clinical Biochemistry
  • Biochemistry, medical


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