Open AccessLethal Hyperammonemia due to Ornithine Transcarbamylase Deficiency in a Patient with Severe Septic Shock
Author(s) -
JiHwan Hwang,
Joo Han Song,
Young Seok Lee,
Kyung Soo Chung,
Song Yee Kim,
Eun Young Kim,
Ji Ye Jung,
Young Ae Kang,
Young Sam Kim,
Joon Chang,
Moo Suk Park
Publication year - 2016
Publication title -
the korean journal of critical care medicine
Language(s) - English
Resource type - Journals
eISSN - 2383-4889
pISSN - 2383-4870
DOI - 10.4266/kjccm.2016.31.2.140
Subject(s) - hyperammonemia , ornithine transcarbamylase , medicine , ornithine transcarbamylase deficiency , septic shock , cerebral edema , urea cycle , respiratory failure , intensive care , gastroenterology , intensive care medicine , sepsis , arginine , biochemistry , chemistry , amino acid
Severe hyperammonemia can occur as a result of inherited or acquired liver enzyme defects in the urea cycle, among which ornithine transcarbamylase deficiency (OTCD) is the most common form. We report a very rare case of a 45-year-old Korean male who was admitted to the intensive care unit (ICU) due to severe septic shock with acute respiratory failure caused by Pneumocystis jiroveci pneumonia. During his ICU stay with ventilator care, the patient suffered from marked hyperammonemia (>1,700 μg/dL) with abrupt mental change leading to life-threatening cerebral edema. Despite every effort including continuous renal replacement therapy and use of a molecular adsorbent recirculating system (extracorporeal liver support–albumin dialysis) to lower his serum ammonia level, the patient was not recovered. The lethal hyperammonemia in the patient was later proven to be a manifestation of acquired liver enzyme defect known as OTCD, which is triggered by serious catabolic conditions, such as severe septic shock with acute respiratory failure