Source:http://linkedlifedata.com/resource/pubmed/id/16227111
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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
4 Suppl
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pubmed:dateCreated |
2005-10-17
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pubmed:abstractText |
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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pubmed:grant |
http://linkedlifedata.com/resource/pubmed/grant/DK54450,
http://linkedlifedata.com/resource/pubmed/grant/HD024064,
http://linkedlifedata.com/resource/pubmed/grant/HD041648,
http://linkedlifedata.com/resource/pubmed/grant/M01-RR-0095,
http://linkedlifedata.com/resource/pubmed/grant/RR00188,
http://linkedlifedata.com/resource/pubmed/grant/U54-RR-019453
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:chemical | |
pubmed:status |
MEDLINE
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pubmed:month |
Oct
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pubmed:issn |
0749-0704
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:volume |
21
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
S1-8
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pubmed:dateRevised |
2007-11-14
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pubmed:meshHeading |
pubmed-meshheading:16227111-Adult,
pubmed-meshheading:16227111-Age of Onset,
pubmed-meshheading:16227111-Brain Diseases, Metabolic, Inborn,
pubmed-meshheading:16227111-Carbamoyl-Phosphate Synthase I Deficiency Disease,
pubmed-meshheading:16227111-Critical Illness,
pubmed-meshheading:16227111-Emergencies,
pubmed-meshheading:16227111-Female,
pubmed-meshheading:16227111-Humans,
pubmed-meshheading:16227111-Hyperammonemia,
pubmed-meshheading:16227111-Male,
pubmed-meshheading:16227111-Middle Aged,
pubmed-meshheading:16227111-Ornithine Carbamoyltransferase Deficiency Disease,
pubmed-meshheading:16227111-Precipitating Factors,
pubmed-meshheading:16227111-Urea
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pubmed:year |
2005
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pubmed:articleTitle |
Unmasked adult-onset urea cycle disorders in the critical care setting.
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pubmed:affiliation |
Center for Human Genetic Research, Division of Medical Genetics, Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN 37232-0165, USA. marshall.summar@vanderbilt.edu
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Review,
Case Reports,
Research Support, N.I.H., Extramural
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