Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4 Suppl
pubmed:dateCreated
2005-10-17
pubmed:abstractText
Although most commonly associated with infancy, the majority of individuals with urea cycle disorders (UCDs) present outside the neonatal period, frequently in childhood. Signs and symptoms are often vague, but recurrent; fulminant presentations associated with acute illness are also common. A disorder of urea cycle metabolism should be considered in children who have recurrent symptoms, especially neurologic abnormalities associated with periods of decompensation. Routine laboratory tests, including measurement of plasma ammonia concentrations, can indicate a potential UCD; however, specific metabolic testing and ultimately enzymatic or molecular confirmation are necessary to establish a diagnosis. Treatment with dietary protein restriction and medications may be challenging in children.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Oct
pubmed:issn
0749-0704
pubmed:author
pubmed:issnType
Print
pubmed:volume
21
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
S9-17
pubmed:dateRevised
2009-11-19
pubmed:meshHeading
pubmed:year
2005
pubmed:articleTitle
Urea cycle disorders: clinical presentation outside the newborn period.
pubmed:affiliation
Maine Pediatric Specialty Group, Portland, ME 04102, USA. smithw@mmc.org
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S., Review, Case Reports, Research Support, N.I.H., Extramural