Korean J Crit Care Med.  2016 May;31(2):140-145. 10.4266/kjccm.2016.31.2.140.

Lethal Hyperammonemia due to Ornithine Transcarbamylase Deficiency in a Patient with Severe Septic Shock

• Hwang JA
• Song JH
• Lee YS
• Chung KS
• Kim SY
• Kim EY
• Jung JY
• Kang YA
• Kim YS
• Chang J
• Park MS

• KMID: 2350922
• DOI: http://doi.org/10.4266/kjccm.2016.31.2.140

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.

Keyword

cerebral edema; hyperammonemia; ornithine transcarbamylase deficiency; respiratory failure; septic shock

MeSH Terms

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
Ammonia
Ornithine
Ornithine Carbamoyltransferase
Urea

Figure

• 

  Fig. 1. Chest imaging (A, B) at admission shows bilateral patch consolidations, ground glass opacities and interlobular septal thickening with a small quantity of pleural effusion.

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  Fig. 2. Contrast brain magnetic resonance imaging shows severe brain swelling and increased cortical and subcortical gray matter signal changes suggesting hypoxic damage.

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  Fig. 3. Urine collection analysis displays urine orotic acid peak confirming the diagnosis of ornithine transcarbamylase deficiency (OTCD). OTCD: ornithine transcarbamylase deficiency.

Reference

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