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

Abstract

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.

• Authors: Marshall L Summar, Frederick Barr, Sheila Dawling, Wendy Smith, Brendan Lee, Rani H Singh, William J Rhead, Lisa Sniderman King, Brian W Christman
• Journal: Critical care clinics (Crit Care Clin) Vol. 21 Issue 4 Suppl Pg. S1-8 (Oct 2005) ISSN: 0749-0704 [Print] United States
• PMID: 16227111 (Publication Type: Case Reports, Journal Article, Research Support, N.I.H., Extramural, Research Support, U.S. Gov't, P.H.S., Review)

Chemical References

• Urea

Topics

• Adult
• Age of Onset
• Brain Diseases, Metabolic, Inborn (diagnosis, etiology, therapy)
• Carbamoyl-Phosphate Synthase I Deficiency Disease (diagnosis, etiology, therapy)
• Critical Illness
• Emergencies
• Female
• Humans
• Hyperammonemia (diagnosis, etiology, therapy)
• Male
• Middle Aged
• Ornithine Carbamoyltransferase Deficiency Disease (diagnosis, etiology, therapy)
• Precipitating Factors
• Urea (metabolism)