Linked Life Data

8145917

Source:http://linkedlifedata.com/resource/pubmed/id/8145917

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3 Pt 1
pubmed:dateCreated
1994-4-29
pubmed:abstractText
A young man presented with recurrent episodes of muscle pain and myoglobinuria after prolonged exercise or fasting. Studies on isolated muscle mitochondria showed slow flux through beta-oxidation and the presence of only saturated long-chain acyl coenzyme A (acyl-CoA) esters. These results strongly suggested a defect in the dehydrogenation of long-chain acyl-CoA esters that we confirmed by measurement of enzyme activity in muscle and platelet mitochondrial fractions and fibroblast homogenates. In all tissues studied from the patient, the enzyme activity was approximately 10% of control values with acyl-CoA esters from C16-C22 as substrates. We investigated the intramitochondrial location of the deficient acyl-CoA dehydrogenase by subfractionation of platelet mitochondria and, in contrast to the short-chain and medium-chain enzymes, which were localized in the soluble fraction, the majority of the acyl-CoA dehydrogenase activity with long-chain substrates was in the membrane fraction. These studies indicate that in humans, the predominant enzyme catalyzing the dehydrogenation of long-chain acyl-CoA esters is membrane-bound and that deficiency of this enzyme is a cause of muscle pain and rhabdomyolysis.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
AIM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Mar
pubmed:issn
0028-3878
pubmed:author
pubmed:issnType
Print
pubmed:volume
44
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
467-73
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1994
pubmed:articleTitle
Very long-chain acyl coenzyme A dehydrogenase deficiency presenting with exercise-induced myoglobinuria.
pubmed:affiliation
Division of Clinical Neuroscience, Medical School, University of Newcastle upon Tyne, UK.
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't