期刊
CRITICAL CARE CLINICS
卷 21, 期 4, 页码 S1-+出版社
W B SAUNDERS CO
DOI: 10.1016/j.ccc.2005.05.002
关键词
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资金
- NCRR NIH HHS [RR00188, U54-RR-019453, M01-RR-0095] Funding Source: Medline
- NICHD NIH HHS [HD041648, HD024064] Funding Source: Medline
- NIDDK NIH HHS [DK54450] Funding Source: Medline
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.
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