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Clinical Journal of Gastroenterology

, Volume 10, Issue 4, pp 383–387 | Cite as

Late-onset ornithine transcarbamylase deficiency associated with hyperammonemia

  • Kana Daijo
  • Tomokazu KawaokaEmail author
  • Takashi Nakahara
  • Yuko Nagaoki
  • Masataka Tsuge
  • Akira Hiramatsu
  • Michio Imamura
  • Yoshiiku Kawakami
  • Hiroshi Aikata
  • Keiichi Hara
  • Go Tajima
  • Masao Kobayashi
  • Kazuaki Chayama
Case Report

Abstract

The urea cycle converts ammonia and produces urea. One form of urea cycle abnormality is ornithine transcarbamylase (OTC) deficiency. This hereditary disorder is associated with hyperammonemia. OTC deficiency commonly appears during neonatal and early childhood life and is rare in adults. We report a 69-year-old man who presented at the local hospital with 3-day loss of appetite, early morning vomiting, and state of confusion. Blood ammonia was 293 μg/dl. At 2–3 h after admission, the patient went into a deep coma. He was intubated and admitted immediately to the intensive care unit. Treatment, including sustained hemodialysis, failed to lower blood ammonia level. His grandchild died of OTC deficiency at 6 year of age. Computed tomography, magnetic resonance imaging and esophagogastroduodenoscopy showed no abnormalities. On admission to our hospital, he complained of vomiting and disturbance of consciousness, hyperammonemia, and normal anion gap. Genetic analysis showed A208T mutation. The deceased grandchild with OTC deficiency also had the same mutation. Long-term hemodialysis coupled with administration of l-arginine and lactulose resulted in improvement of blood ammonia level. Early diagnosis and treatment of adult-onset OTC deficiency are essential to avoid serious complications.

Keywords

OTC A208T Late-onset 

Notes

Compliance with ethical standards

Conflict of interest

The authors declare that they have no competing interest.

Human/animal rights

All procedures followed have been performed in accordance with the ethical standards laid down in the 1964 Declaration of Helsinki and its later amendments.

Informed consent

Informed consent was obtained from all patients for being included in the study.

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Copyright information

© Japanese Society of Gastroenterology 2017

Authors and Affiliations

  • Kana Daijo
    • 1
  • Tomokazu Kawaoka
    • 1
    Email author
  • Takashi Nakahara
    • 1
  • Yuko Nagaoki
    • 1
  • Masataka Tsuge
    • 1
  • Akira Hiramatsu
    • 1
  • Michio Imamura
    • 1
  • Yoshiiku Kawakami
    • 1
  • Hiroshi Aikata
    • 1
  • Keiichi Hara
    • 2
  • Go Tajima
    • 3
  • Masao Kobayashi
    • 3
  • Kazuaki Chayama
    • 1
  1. 1.Department of Gastroenterology and MetabolismHiroshima University HospitalHiroshimaJapan
  2. 2.Department of PediatricsNational Hospital Organization Kure Medical CenterKureJapan
  3. 3.Department of PediatricsHiroshima University Graduate School of Biomedical and Health SciencesHiroshimaJapan

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