
Ornithine transcarbamylase deficiency that developed at the age of 19 years with acute brain edema
Author(s) -
Mitani Hidenori,
Mochizuki Toshiaki,
Otani Norio,
Tanaka Hiroyuki,
Ishimatsu Shinichi
Publication year - 2016
Publication title -
acute medicine and surgery
Language(s) - English
Resource type - Journals
ISSN - 2052-8817
DOI - 10.1002/ams2.214
Subject(s) - ornithine transcarbamylase deficiency , ornithine transcarbamylase , brain edema , medicine , edema , urea cycle , biology , genetics , amino acid , arginine
Case A 19‐year‐old man had nausea, diarrhea, and general malaise the day before requesting emergency transport to his former primary physician. The patient became restless and had tonic seizures after admission. The patient was transferred to our hospital as there had been no improvement in his level of consciousness. On arrival, cranial computed tomography showed generalized swelling, and blood ammonia concentration was ≥500 μg/ dL . After admission, seizures recurred continually despite careful monitoring and increased doses of sedatives and antiseizure drugs. Dilated pupils and a flat electroencephalogram were evident on day 4 of admission, and the patient died on day 11. Ornithine transcarbamylase deficiency was diagnosed at postmortem based on fractionation of blood and urine amino acids and orotic acid. Outcome Urea cycle disorders need to be treated urgently to prevent irreversible neurological damage when accompanied by hyperammonemia. Conclusion In cases of hyperammonemia, early dialysis should be considered to reduce the ammonia level.