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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
1-2
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pubmed:dateCreated |
1992-10-9
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pubmed:abstractText |
We developed a coupled NaH14CO3 fixation assay to detect 3-oxothiolase deficiency in extracts of cultured human fibroblasts. Cell extracts were incubated with tiglyl-CoA, NAD, CoASH, ATP and NaH14CO3. The enzymatic activities of tiglyl-CoA (enoyl-CoA) hydratase, 2-methyl-3-hydroxybutyryl-CoA dehydrogenase and 2-methylacetoacetyl-CoA thiolase (3-oxothiolase) were coupled to produce propionyl-CoA. Propionyl-CoA produced in the assay was estimated by fixation of NaH14CO3 into [14C]methylmalonyl-CoA employing endogenous propionyl-CoA carboxylase. The control activity was 32 +/- 23 pmol/min per mg protein (+/- 1 S.D., range 7-94; 28 cell lines). Five known cases of 3-oxothiolase deficiency had a mean activity of 2% of the control; a sixth case of 3-oxothiolase deficiency was significantly higher at 27% of the mean control value. Coupled assay activity was also low (3% of control) in the cells from a patient with propionyl-CoA carboxylase deficiency.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
http://linkedlifedata.com/resource/pubmed/chemical/Acetyl-CoA C-Acetyltransferase,
http://linkedlifedata.com/resource/pubmed/chemical/Acyl Coenzyme A,
http://linkedlifedata.com/resource/pubmed/chemical/Adenosine Triphosphate,
http://linkedlifedata.com/resource/pubmed/chemical/Bicarbonates,
http://linkedlifedata.com/resource/pubmed/chemical/Carbon Radioisotopes,
http://linkedlifedata.com/resource/pubmed/chemical/Enoyl-CoA Hydratase,
http://linkedlifedata.com/resource/pubmed/chemical/Isoleucine,
http://linkedlifedata.com/resource/pubmed/chemical/Magnesium Chloride,
http://linkedlifedata.com/resource/pubmed/chemical/NAD,
http://linkedlifedata.com/resource/pubmed/chemical/Sodium,
http://linkedlifedata.com/resource/pubmed/chemical/Sodium Bicarbonate,
http://linkedlifedata.com/resource/pubmed/chemical/methylmalonyl-coenzyme A,
http://linkedlifedata.com/resource/pubmed/chemical/propionyl-coenzyme A,
http://linkedlifedata.com/resource/pubmed/chemical/tiglyl-coenzyme A
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pubmed:status |
MEDLINE
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pubmed:month |
Jan
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pubmed:issn |
0009-8981
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:day |
31
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pubmed:volume |
205
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
127-35
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pubmed:dateRevised |
2004-11-17
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pubmed:meshHeading |
pubmed-meshheading:1355701-Acetyl-CoA C-Acetyltransferase,
pubmed-meshheading:1355701-Acyl Coenzyme A,
pubmed-meshheading:1355701-Adenosine Triphosphate,
pubmed-meshheading:1355701-Bicarbonates,
pubmed-meshheading:1355701-Carbon Radioisotopes,
pubmed-meshheading:1355701-Cells, Cultured,
pubmed-meshheading:1355701-Enoyl-CoA Hydratase,
pubmed-meshheading:1355701-Fibroblasts,
pubmed-meshheading:1355701-Humans,
pubmed-meshheading:1355701-Isoleucine,
pubmed-meshheading:1355701-Magnesium Chloride,
pubmed-meshheading:1355701-NAD,
pubmed-meshheading:1355701-Sodium,
pubmed-meshheading:1355701-Sodium Bicarbonate
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pubmed:year |
1992
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pubmed:articleTitle |
A coupled assay detecting defects in fibroblast isoleucine degradation distal to enoyl-CoA hydratase: application to 3-oxothiolase deficiency.
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pubmed:affiliation |
Kimberly H. Courtwright and Joseph W. Summers Metabolic Disease Center, Baylor University Medical Center, Dallas, Texas 75226.
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pubmed:publicationType |
Journal Article
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