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Cross-sectional study of bone metabolism with nutrition in adult classical phenylketonuric patients diagnosed by neonatal screening

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Abstract

The mechanism underlying the development of osteopenia or osteoporosis in longstanding phenylketonuria (PKU) remains to be clarified. We investigated the details of bone metabolism in 21 female and 13 male classical PKU patients aged 20–35 years. Vitamin D (VD), parathyroid hormone (PTH), bone turnover markers, and daily nutrient intake were examined. The patients had lower daily energy and protein intake than did the age-matched controls (22 women, 14 men), but their respective fat, VD, and calcium intake did not differ. Serum 1,25-dihydroxy VD and 25-hydroxy VD levels in female and male patient groups were significantly higher and lower than those in respective control groups (females, P < 0.001; males, P < 0.05 and P < 0.01, respectively). Serum intact PTH levels were significantly higher in the female patient group (P < 0.05). Urinary calcium levels in the patient groups were significantly higher than those of the control subjects (females, P < 0.001; males, P < 0.05). Bone resorption markers were significantly higher in patients than in controls, although bone formation markers were not different. Patient serum levels of osteoprotegerin-inhibiting bone resorption were significantly lower (females, P < 0.001; males, P < 0.01). None of the bone parameters correlated significantly with serum phenylalanine or nutrient intake. PKU patients exhibited lower VD status and more rapid bone resorption despite normal calcium–VD intakes.

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Authors and Affiliations

  1. Department of Pediatrics, Takarazuka City Hospital, 4-5-1 Kohama Cho, Takarazuka, 665-0827, Japan

    Hironori Nagasaka

  2. Department of Pediatrics, Okayama University Hospital, Okayama, Japan

    Hirokazu Tsukahara

  3. Department of Pediatrics, Graduate School of Medicine, Chiba University, Chiba, Japan

    Tomozumi Takatani

  4. Division of Metabolism, Chiba Children’s Hospital, Chiba, Japan

    Yoshitami Sanayama & Masaki Takayanagi

  5. Department of Pediatrics, Tohoku University Hospital, Sendai, Japan

    Toshihiro Ohura & Osamu Sakamoto

  6. Department of Neonatology and Pediatrics, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan

    Tetsuya Ito

  7. Department of Pediatrics, Nihon University School of Medicine, Tokyo, Japan

    Mika Wada

  8. Department of Pediatrics, Kurume University Graduate School of Medicine, Kurume, Japan

    Makoto Yoshino

  9. Department of Pediatrics, Faculty of Medicine, Saitama Medical University, Iruma, Saitama, Japan

    Akira Ohtake

  10. Development of Pediatric Endocrinology and Metabolism, Osaka City General Hospital Children’s Medical Center, Osaka, Japan

    Tohru Yorifuji

  11. Department of Clinical and Laboratory Medicine, Juntendo University, Tokyo, Japan

    Satoshi Hirayama & Takashi Miida

  12. Division of Endocrinology and Metabolism, Saitama Children’s Medical Center, Saitama, Japan

    Hiroshi Mochizuki

  13. Dietary Section, Osaka City University Hospital Nutrition, Osaka, Japan

    Hiroki Fujimoto & Toshikazu Hattori

  14. Department of Pediatrics, Osaka City Graduate School of Medicine, Osaka, Japan

    Yoshiyuki Okano

Authors
  1. Hironori Nagasaka
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  2. Hirokazu Tsukahara
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  3. Tomozumi Takatani
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  4. Yoshitami Sanayama
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  5. Masaki Takayanagi
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  6. Toshihiro Ohura
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  7. Osamu Sakamoto
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  8. Tetsuya Ito
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  9. Mika Wada
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  10. Makoto Yoshino
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  11. Akira Ohtake
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  12. Tohru Yorifuji
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  13. Satoshi Hirayama
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  14. Takashi Miida
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  15. Hiroki Fujimoto
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  16. Hiroshi Mochizuki
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  17. Toshikazu Hattori
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  18. Yoshiyuki Okano
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Corresponding author

Correspondence to Hironori Nagasaka.

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Nagasaka, H., Tsukahara, H., Takatani, T. et al. Cross-sectional study of bone metabolism with nutrition in adult classical phenylketonuric patients diagnosed by neonatal screening. J Bone Miner Metab 29, 737–743 (2011). https://doi.org/10.1007/s00774-011-0276-6

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  • DOI: https://doi.org/10.1007/s00774-011-0276-6

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