Hyperammonemia in a patient with late-onset ornithine carbamoyltransferase deficiency

Abstract

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.

Keywords: Hemodialysis; Hyperammonemia; Ornithine Carbamoyltransferase Deficiency; Urea Cycle Disorder.

Fig. 1

Effect of arginine, sodium benzoate and hemodialysis in a late-onset ornithine transcarbamylase deficiency.

Fig. 2

The pedigree of patient with late-onset OTC deficiency. Four uncles of the patient had died of unknown causes after eating a large amount of meat (red circles). The other uncles and aunt of the patient had died of old age.