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Effects of arginine treatment on nutrition, growth and urea cycle function in seven Japanese boys with late-onset ornithine transcarbamylase deficiency

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Abstract

Background

The aim of this study was to investigate the effects of arginine on nutrition, growth and urea cycle function in boys with late-onset ornithine transcarbamylase deficiency (OTCD). Seven Japanese boys with late-onset OTCD enrolled in this study resumed arginine treatment after the cessation of this therapy for a few years. Clinical presentations such as vomiting and unconsciousness, plasma amino acids and urinary orotate excretion were followed chronologically to evaluate urea cycle function and protein synthesis with and without this therapy. In addition to height and body weight, blood levels of proteins, lipids, growth hormone (GH), insulin-like growth factor-I (IGF-I) and IGF-binding protein -3 (IGFBP-3) were monitored.

Results

The frequency of hyperammonemic attacks and urinary orotate excretion decreased significantly following the resumption of arginine treatment. Despite showing no marked change in body weight, height increased gradually. Extremely low plasma arginine increased to normal levels, while plasma glutamine and alanine levels decreased considerably. Except for a slight increase in high-density lipoprotein cholesterol level, blood levels of markers for nutrition did not change. In contrast, low serum IGF-I and IGFBP-3 levels increased to age-matched control levels, and normal urinary GH secretion became greater than the level observed in the controls.

Conclusion

Arginine treatment is able to reduces attacks of hyperammonemia in boys with late-onset OTCD and to increase their growth.

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Abbreviations

FFA:

Free fatty acids

GH:

Growth hormone

IGF-I:

Insulin-like growth factor-I

IGFBP-3:

Insulin-like growth factor binding protein-3

OTCD:

Ornithine transcarbamylase deficiency

TKB:

Total ketone body

TP:

Total protein

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Authors and Affiliations

  1. Division of Metabolism, Chiba Children’s Hospital, 579-1, Heta-Cho, Midori-ku, Chiba, 266-0007, Japan

    Hironori Nagasaka, Kei Murayama, Tomoko Murakami, Tomozumi Takatani & Masaki Takayanagi

  2. Department of Pediatrics, Kyoto University Graduate School of Medicine, Sakyo-ku, Kyoto-shi, Kyoto, Japan

    Tohru Yorifuji & Keiji Kurokawa

  3. Department of Pediatrics, Hokkaido University Graduate School of Medicine, Kita-ku, Sapporo, Hokkaido, 060-8638, Japan

    Mitsuru Kubota & Kunihiko Kobayashi

  4. Department of Pediatrics, Chiba University Graduate School of Medicine, Midori-ku, Chiba, Japan

    Masaki Kanazawa, Atsushi Ogawa, Emi Ogawa & Shigenori Yamamoto

  5. Division of Endocrinology and Metabolism, Kanagawa Children’s Medical Center, Mutsukawa, Minami-ku, Yokohama, Japan

    Masanori Adachi

Authors
  1. Hironori Nagasaka
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  2. Tohru Yorifuji
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  12. Masanori Adachi
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  13. Kunihiko Kobayashi
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  14. Masaki Takayanagi
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Correspondence to Hironori Nagasaka.

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Nagasaka, H., Yorifuji, T., Murayama, K. et al. Effects of arginine treatment on nutrition, growth and urea cycle function in seven Japanese boys with late-onset ornithine transcarbamylase deficiency. Eur J Pediatr 165, 618–624 (2006). https://doi.org/10.1007/s00431-006-0143-y

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  • DOI: https://doi.org/10.1007/s00431-006-0143-y

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