Hyperammonemia in a Woman with Late-onset Ornithine Transcarbamylase Deficiency

Yudai Koya; Michihiko Shibata; Michio Senju; Yuichi Honma; Masaaki Hiura; Masahiro Ishii; Shirou Matsumoto; Masaru Harada

doi:10.2169/internalmedicine.1851-18

This article has now been updated. Please use the final version.

Hyperammonemia in a Woman with Late-onset Ornithine Transcarbamylase Deficiency

Yudai Koya, Michihiko Shibata, Michio Senju, Yuichi Honma, Masaaki Hiura, Masahiro Ishii, Shirou Matsumoto, Masaru Harada

Author information

Yudai Koya
Third Department of Internal Medicine, School of Medicine, University of Occupational and Environmental Health, Japan
Michihiko Shibata
Third Department of Internal Medicine, School of Medicine, University of Occupational and Environmental Health, Japan
Michio Senju
Third Department of Internal Medicine, School of Medicine, University of Occupational and Environmental Health, Japan
Yuichi Honma
Third Department of Internal Medicine, School of Medicine, University of Occupational and Environmental Health, Japan
Masaaki Hiura
Third Department of Internal Medicine, School of Medicine, University of Occupational and Environmental Health, Japan
Masahiro Ishii
Department of Pediatrics, School of Medicine, University of Occupational and Environmental Health, Japan
Shirou Matsumoto
Department of Pediatrics, Graduate School of Medical Sciences, Kumamoto University, Japan
Masaru Harada
Third Department of Internal Medicine, School of Medicine, University of Occupational and Environmental Health, Japan

Keywords: hyperammonemia, ornithine transcarbamylase deficiency, urea cycle, urea cycle disorder, L-arginine, c.119G>A mutation

JOURNAL OPEN ACCESS Advance online publication

Article ID: 1851-18

DOI https://doi.org/10.2169/internalmedicine.1851-18

The final version of this article is now available: Vol. 58 (2019), No. 7 pp. 937-942

Details

Abstract

A 52-year-old woman developed vomiting and disturbance of consciousness after consuming raw fish and sushi on a trip. A blood test showed hyperammonemia (310 μg/dL) with a normal liver function. She fell into a deep coma, and her serum ammonia level increased to 684 μg/dL. L-arginine was administered as a diagnostic treatment for urea cycle disorder (UCD) and serum ammonia, and her consciousness levels improved. She was diagnosed with ornithine transcarbamylase deficiency (OTCD) by analyses of plasma amino acids, urinary orotic acid, and the OTC gene mutation. UCD should be considered for patients with hyperammonemia without severe liver function abnormalities.

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