Hyperammonemia in a Woman with Late-onset Ornithine Transcarbamylase Deficiency

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 administere...

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Published inInternal Medicine Vol. 58; no. 7; pp. 937 - 942
Main Authors Koya, Yudai, Shibata, Michihiko, Senju, Michio, Honma, Yuichi, Hiura, Masaaki, Ishii, Masahiro, Matsumoto, Shirou, Harada, Masaru
Format Journal Article
LanguageEnglish
Published Japan The Japanese Society of Internal Medicine 01.04.2019
Japan Science and Technology Agency
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
hyperammonemia
ornithine transcarbamylase deficiency
urea cycle
L-arginine
urea cycle disorder
c.119G>A mutation
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Summary: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.
Bibliography:ObjectType-Case Study-2
SourceType-Scholarly Journals-1
ObjectType-Feature-4
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ObjectType-Report-1
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Correspondence to Dr.　Yudai Koya, 58yudaikoya@gmail.com
ISSN:0918-2918
1349-7235
1349-7235
DOI:10.2169/internalmedicine.1851-18