Document Detail

Very long chain acyl-CoA dehydrogenase deficiency: identification of a new inborn error of mitochondrial fatty acid oxidation in fibroblasts.
MedLine Citation:
PMID:  8422439     Owner:  NLM     Status:  MEDLINE    
A patient highly suspected of long chain fatty acid oxidation defect was investigated for membrane-bound palmitoyl-CoA dehydrogenation in a membrane extract from skin fibroblasts, using 1% sodium cholate as detergent. The profoundly decreased activity observed is consistent with a deficiency of the newly identified mitochondrial 'very long chain acyl-CoA dehydrogenase'.
C Bertrand; C Largillière; M T Zabot; M Mathieu; C Vianey-Saban
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Biochimica et biophysica acta     Volume:  1180     ISSN:  0006-3002     ISO Abbreviation:  Biochim. Biophys. Acta     Publication Date:  1993 Jan 
Date Detail:
Created Date:  1993-02-25     Completed Date:  1993-02-25     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  0217513     Medline TA:  Biochim Biophys Acta     Country:  NETHERLANDS    
Other Details:
Languages:  eng     Pagination:  327-9     Citation Subset:  IM    
Centre d'Etude des Maladies Métaboliques, Hopital Debrousse, Lyon, France.
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MeSH Terms
Acyl-CoA Dehydrogenase, Long-Chain / deficiency*
Fatty Acids / metabolism*
Fibroblasts / metabolism*
Infant, Newborn
Metabolism, Inborn Errors / enzymology*
Mitochondria / metabolism*
Reg. No./Substance:
0/Fatty Acids; EC Dehydrogenase, Long-Chain

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