Abstract
Disorders of the urea cycle are secondary to a defect in the system that converts ammonia into urea, resulting in accumulation of ammonia and other products. This results in encephalopathy, coma, and death if not recognized and treated rapidly. Late-onset urea cycle disorders may be precipitated by acute disease and can be difficult to recognize because patients are already ill. Diagnosis of urea cycle disorders is based on clinical suspicion and determination of blood ammonia in suspected patients with neurological symptoms in the intensive care setting. Treatment is based on the removal of ammonia by dialysis or hemofiltration, reduction of the catabolic state, abolishment of nitrogen administration, and use of pharmacological nitrogen scavenging agents.
Highlights
We reported a case of a 49-year-old man with biliary acute pancreatitis who developed high fever and a large pancreatic abscess
Lactulose treatment produced no improvement in clinical signs, and the patient remained in a deep coma, with ammonia levels elevated up to 254 μ/L
In partial deficiency of urea cycle enzymes, symptoms may develop late in life. These symptoms are frequently triggered by acute stress or illness, such as sepsis, surgery, trauma, or drugs, because of their effect on the function of the enzyme carbamoyl phosphate synthetase-1 (CPS-1) [2] especially in patients on parenteral nutrition [8]
Summary
We reported a case of a 49-year-old man with biliary acute pancreatitis who developed high fever and a large pancreatic abscess. In partial deficiency of urea cycle enzymes, symptoms may develop late in life These symptoms are frequently triggered by acute stress or illness, such as sepsis, surgery, trauma, or drugs (e.g., valproic acid), because of their effect on the function of the enzyme carbamoyl phosphate synthetase-1 (CPS-1) [2] especially in patients on parenteral nutrition [8]. We present here a review of the clinical features, diagnosis, and treatment of these disorders in late-onset diseases related to partial enzyme deficiency decompensated by acute stress. Citrin deficiency leads to a decrease in cytoplasmic aspartate, limiting the activity of the enzyme argininosuccinic acid synthase [2] Diagnosis of this alteration is based on findings of hyperammonemia and increased plasma concentrations of citrulline and arginine. UCDs is related to eight defects, with deficiencies in six enzymes and two transporters
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