Hyperammonemia in a Woman with Late-onset Ornithine Transcarbamylase Deficiency

• Published in: Internal Medicine 2019/04/01, Vol.58(7), pp.937-942
• Main Authors: Koya, Yudai, Shibata, Michihiko, Senju, Michio, Honma, Yuichi, Hiura, Masaaki, Ishii, Masahiro, Matsumoto, Shirou, Harada, Masaru
• Format: Article
• Language: English
• Subjects: Adolescent; Amino Acids - blood; Ammonia; Ammonia - blood; Arginine; Arginine - therapeutic use; c.119G>A mutation; Case Report; Coma; Coma - etiology; Consciousness; Female; Humans; Hyperammonemia; Hyperammonemia - etiology; Internal medicine; L-arginine; Liver; Middle Aged; Mutation; Ornithine; Ornithine Carbamoyltransferase - genetics; Ornithine Carbamoyltransferase Deficiency Disease - complications; Ornithine Carbamoyltransferase Deficiency Disease - diagnosis; Ornithine Carbamoyltransferase Deficiency Disease - drug therapy; Ornithine Carbamoyltransferase Deficiency Disease - genetics; ornithine transcarbamylase deficiency; Orotic acid; Pedigree; Point mutation; Urea; urea cycle; urea cycle disorder; Vomiting; Vomiting - etiology
• ISSN: 0918-2918; 1349-7235; 1349-7235
• DOI: 10.2169/internalmedicine.1851-18

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.