Lethal Hyperammonemia due to Ornithine Transcarbamylase Deficiency in a Patient with Severe Septic Shock
10.4266/kjccm.2016.31.2.140
- Author:
Ji An HWANG
1
;
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
Author Information
1. Division of Pulmonology, Department of Internal Medicine, Severance Hospital, Institute of Chest Diseases, Yonsei University College of Medicine, Seoul, Korea. pms70@yuhs.ac
- Publication Type:Case Report
- Keywords:
cerebral edema;
hyperammonemia;
ornithine transcarbamylase deficiency;
respiratory failure;
septic shock
- MeSH:
Ammonia;
Brain Edema;
Humans;
Hyperammonemia;
Intensive Care Units;
Liver;
Male;
Middle Aged;
Ornithine Carbamoyltransferase Deficiency Disease;
Ornithine Carbamoyltransferase;
Ornithine;
Pneumocystis jirovecii;
Pneumonia;
Renal Replacement Therapy;
Respiratory Insufficiency;
Shock, Septic;
Urea;
Ventilators, Mechanical
- From:The Korean Journal of Critical Care Medicine
2016;31(2):140-145
- CountryRepublic of Korea
- Language:English
-
Abstract:
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.
