Journal
INTERNAL MEDICINE
Volume 58, Issue 7, Pages 937-942Publisher
JAPAN SOC INTERNAL MEDICINE
DOI: 10.2169/internalmedicine.1851-18
Keywords
hyperammonemia; ornithine transcarbamylase deficiency; urea cycle; urea cycle disorder; L-arginine; c.119G > A mutation
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Funding
- AMED [JP17ek0109276]
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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 mu g/dL) with a normal liver function. She fell into a deep coma, and her serum ammonia level increased to 684 mu g/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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