Linked Life Data

15505397

Source:http://linkedlifedata.com/resource/pubmed/id/15505397

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6
pubmed:dateCreated
2004-10-26
pubmed:abstractText
The history of glutaryl-CoA dehydrogenase deficiency is determined by acute encephalopathic crises that are precipitated by common febrile diseases, vaccinations or surgical interventions during infancy and early childhood. Such crises result in an irreversible destruction of the basal ganglia (in particular of the putamina), and consequently dystonia, dyskinesia and choreoathetosis. Secondary complications include feeding and speech problems, failure to thrive, recurrent aspiration, immobilization, severe motor deficits and early death. It is generally accepted that maintenance treatment based on dietary lysine or protein restriction and supplementation with carnitine (and riboflavin) is insufficient to prevent acute crises during intercurrent illnesses or conditions that enhance catabolic state. Consequently, outpatient and inpatient emergency therapies have been implemented. The present review describes a recommended approach to emergency therapy for this disease.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
0141-8955
pubmed:author
pubmed:issnType
Print
pubmed:volume
27
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
893-902
pubmed:dateRevised
2007-3-21
pubmed:meshHeading
pubmed:year
2004
pubmed:articleTitle
Emergency treatment in glutaryl-CoA dehydrogenase deficiency.
pubmed:affiliation
University Children's Hospital, Department of General Pediatrics, Division of Metabolic and Endocrine Diseases, D-69120 Heidelberg, Germany.
pubmed:publicationType
Journal Article, Review