J Korean Med Sci.  2012 May;27(5):556-559. 10.3346/jkms.2012.27.5.556.

Hyperammonemia in a Patient with Late-Onset Ornithine Carbamoyltransferase Deficiency

Affiliations
  • 1Department of Internal Medicine, Chungnam National University Hospital, Daejeon, Korea. drngr@cnu.ac.kr

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.

Keyword

Ornithine Carbamoyltransferase Deficiency; Urea Cycle Disorder; Hyperammonemia; Hemodialysis

MeSH Terms

Age of Onset
Ammonia/blood
Arginine/therapeutic use
Citrulline/blood
Humans
Hyperammonemia/*etiology
Male
Middle Aged
Ornithine/blood
Ornithine Carbamoyltransferase Deficiency Disease/complications/*diagnosis/drug therapy
Pedigree
Renal Dialysis
Sodium Benzoate/therapeutic use
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