Unmasked adult-onset urea cycle disorders in the critical care setting. Crit Care Clin 2005 Oct;21(4 Suppl):S1-8
Date
10/18/2005Pubmed ID
16227111DOI
10.1016/j.ccc.2005.05.002Scopus ID
2-s2.0-26844529765 (requires institutional sign-in at Scopus site) 118 CitationsAbstract
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.
Author List
Summar ML, Barr F, Dawling S, Smith W, Lee B, Singh RH, Rhead WJ, Sniderman King L, Christman BWAuthor
William Rhead MD, PhD Adjunct Professor in the Pediatrics department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
AdultAge of Onset
Brain Diseases, Metabolic, Inborn
Carbamoyl-Phosphate Synthase I Deficiency Disease
Critical Illness
Emergencies
Female
Humans
Hyperammonemia
Male
Middle Aged
Ornithine Carbamoyltransferase Deficiency Disease
Precipitating Factors
Urea
