European Journal of Pediatrics

, Volume 165, Issue 9, pp 618–624

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

  • Hironori Nagasaka
  • Tohru Yorifuji
  • Kei Murayama
  • Mitsuru Kubota
  • Keiji Kurokawa
  • Tomoko Murakami
  • Masaki Kanazawa
  • Tomozumi Takatani
  • Atsushi Ogawa
  • Emi Ogawa
  • Shigenori Yamamoto
  • Masanori Adachi
  • Kunihiko Kobayashi
  • Masaki Takayanagi
Original Paper



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.


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.


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


Arginine deficiency Growth hormone Nutrition and growth Plasma glutamine and alanine Ornithine transcarbamylase deficiency Orotate 



Free fatty acids


Growth hormone


Insulin-like growth factor-I


Insulin-like growth factor binding protein-3


Ornithine transcarbamylase deficiency


Total ketone body


Total protein


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Copyright information

© Springer-Verlag 2006

Authors and Affiliations

  • Hironori Nagasaka
    • 1
  • Tohru Yorifuji
    • 2
  • Kei Murayama
    • 1
  • Mitsuru Kubota
    • 3
  • Keiji Kurokawa
    • 2
  • Tomoko Murakami
    • 1
  • Masaki Kanazawa
    • 4
  • Tomozumi Takatani
    • 1
  • Atsushi Ogawa
    • 4
  • Emi Ogawa
    • 4
  • Shigenori Yamamoto
    • 4
  • Masanori Adachi
    • 5
  • Kunihiko Kobayashi
    • 3
  • Masaki Takayanagi
    • 1
  1. 1.Division of MetabolismChiba Children’s HospitalMidori-ku, ChibaJapan
  2. 2.Department of PediatricsKyoto University Graduate School of MedicineKyoto-shi, KyotoJapan
  3. 3.Department of PediatricsHokkaido University Graduate School of Medicine Sapporo, HokkaidoJapan
  4. 4.Department of PediatricsChiba University Graduate School of MedicineMidori-ku, ChibaJapan
  5. 5.Division of Endocrinology and MetabolismKanagawa Children’s Medical CenterYokohamaJapan

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