Open AccessHyperammonemia in a Patient with Late-Onset Ornithine Carbamoyltransferase Deficiency
Author(s) -
Dae Eun Choi,
Kang Wook Lee,
Young Tai Shin,
Ki Young Na
Publication year - 2012
Publication title -
journal of korean medical science/journal of korean medical science
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.743
H-Index - 66
eISSN - 1598-6357
pISSN - 1011-8934
DOI - 10.3346/jkms.2012.27.5.556
Subject(s) - hyperammonemia , lethargy , urea cycle , medicine , ornithine carbamoyltransferase , hemodialysis , gastroenterology , lactulose , sodium benzoate , ornithine transcarbamylase , endocrinology , pediatrics , arginine , ornithine , pathology , biology , biochemistry , amino acid
Ornithine carbamoyltransferase (OTC) deficiency is a urea cycle disorder that causes the accumulation of ammonia, which can lead to encephalopathy. Adults presenting with hyperammonemia who are subsequently diagnosed with urea cycle disorders are rare. Herein, we report a case of a late-onset OTC deficient patient who was successfully treated with arginine, benzoate and hemodialysis. A 59-yr-old man was admitted to our hospital with progressive lethargy and confusion. Although hyperammonemia was suspected as the cause of the patient's mental changes, there was no evidence of chronic liver disease. A plasma amino acid and urine organic acid analysis revealed OTC deficiency. Despite the administration of a lactulose enema, the patient's serum ammonia level increased and he remained confused, leading us to initiate acute hemodialysis. After treatment with arginine, sodium benzoate and hemodialysis, the patient's serum ammonia level stabilized and his mental status returned to normal.