Linked Life Data

3778684

Source:http://linkedlifedata.com/resource/pubmed/id/3778684

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
1987-1-16
pubmed:abstractText
A patient with severe progressive neuropathy and growth retardation who showed a persistent ketosis despite normal blood glucose levels is described. A liver biopsy was analyzed for 3-oxoacyl-CoA thiolase activity. One of the mitochondrial 3-oxoacyl-CoA thiolases which in normal control liver could be activated by K+ was virtually absent in the patient's liver. An intensive search for 3-methylhydroxybutyric acid and 3-methylacetoacetic acid by gas chromatography/mass spectroscopy in the patient's urine failed to show the presence of these acids, demonstrating that the 3-methylacetoacetyl-CoA thiolase is functioning in this patient. It is therefore concluded that the persistent ketosis is due to a deficiency of the mitochondrial acetoacetyl-CoA specific thiolase.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Oct
pubmed:issn
0885-4505
pubmed:author
pubmed:issnType
Print
pubmed:volume
36
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
198-206
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1986
pubmed:articleTitle
Mitochondrial acetoacetyl-CoA thiolase deficiency.
pubmed:publicationType
Journal Article, Case Reports