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Crit Care Clin. 2005 Oct;21(4 Suppl):S1-8.

Unmasked adult-onset urea cycle disorders in the critical care setting.

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Center for Human Genetic Research, Division of Medical Genetics, Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN 37232-0165, USA.


Most often, urea cycle disorders have been described as acute onset hyperammonemia in the newborn period; however, there is a growing awareness that urea cycle disorders can present at almost any age, frequently in the critical care setting. This article presents three cases of adult-onset hyperammonemia caused by inherited defects in nitrogen processing in the urea cycle, and reviews the diagnosis, management, and pathophysiology of adult-onset urea cycle disorders. Individuals who have milder molecular urea cycle defects can lead a relatively normal life until a severe environmental stress triggers a hyperammonemic crisis. Comorbid conditions such as physical trauma often delay the diagnosis of the urea cycle defect. Prompt recognition and treatment are essential in determining the outcome of these patients.

[Indexed for MEDLINE]

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