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J Korean Soc Emerg Med > Volume 19(2); 2008 > Article
Journal of The Korean Society of Emergency Medicine 2008;19(2): 225-228.
A case of Hyperornithinemia-Hyperam monemia-Homocitrullinuria Syndrome: a Patient Who Visited the Emergency Center with Mental Change
Won Joon Jeong, Sang Kyoon Han, Hwa Yeon Yi, Won Suk Lee, Seung Ryu, Jin Woong Lee, Seung Whan Kim, In Sool Yoo, Yeon Ho You
1Department of Emergency Medicine, Chungnam National University College of Medicine, Korea. emfire@cnuh.co.kr
2Emergency Medical Information Center in Daejeon, Korea.
Rapid ammonia elevation in blood with accompanying mental change should be considered as a true medical emergency. In such a case, action leading to immediate diagnosis and the earliest possible treatment must occur in order to minimize permanent brain damage. Hyperornithinemia- Hyperammonemia-Homocitrullinuria (HHH) syndrome is a rare inborn errors of metabolism and autosomal recessive metabolic disorder caused by a deficiency of the mitochondrial ornithine transporter at the cellular level. Emergency physicians should take account of the possibility of HHH syndrome in patients with unreasonable hyperammonemia coupled with altered mental status. We report a case of a 59-year old man who presented with headache, nausea, vomiting and altered mental status. His serologic test showed hyperornithinemia, hyperammomemia, and homocitrullinuria. He was treated with fluid therapy and hemodialysis. His clinical manifestation improved and he was discharged after hemodialysis
Key words: Hyperammonemia, Amino Acid Metabolism, Inborn Errors, Metabolism
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