Linked Life Data

16880373

Source:http://linkedlifedata.com/resource/pubmed/id/16880373

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
2006-8-1
pubmed:abstractText
Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD) is a key enzyme catalysing the dehydrogenation of long-chain fatty acids in mitochondrial beta-oxidation. VLCAD deficiency is a genetic disorder that commonly presents in infancy or childhood with episodes of hypoketotic hypoglycaemia, cardiomyopathy and liver dysfunction. The present study reports an 18-yr-old Chinese female who presented with acute hypercapnic respiratory failure and rhabdomyolysis after a period of prolonged fasting and exertion. VLCAD deficiency was confirmed with decreased VLCAD activity in cultured fibroblasts. The patient completely recovered with supportive care. Pulmonary function tests after the acute episode showed evidence of chronic subclinical respiratory muscle weakness. In conclusion, this rare metabolic disorder should be considered in patients presenting with unexplained acute respiratory paralysis and failure.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Aug
pubmed:issn
0903-1936
pubmed:author
pubmed:issnType
Print
pubmed:volume
28
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
447-50
pubmed:meshHeading
pubmed:year
2006
pubmed:articleTitle
Very long-chain acyl-CoA dehydrogenase deficiency presenting as acute hypercapnic respiratory failure.
pubmed:affiliation
Dept of Medicine, Tuen Mun Hospital, Tuen Mun, Hong Kong, China. khmtong@netvigator.com
pubmed:publicationType
Journal Article, Case Reports