Very long chain acyl-CoA dehydrogenase deficiency: identification of a new inborn error of mitochondrial fatty acid oxidation in fibroblasts.
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'.
Bertrand
C
C
Centre d'Etude des Maladies Métaboliques, Hopital Debrousse, Lyon, France.
Largillière
C
C
Zabot
M T
MT
Mathieu
M
M
Vianey-Saban
C
C
D044942:Acyl-CoA Dehydrogenase, Long-Chain / Q000172:deficiency*; D005227:Fatty Acids / Q000378:metabolism*; D005260:Female; D005347:Fibroblasts / Q000378:metabolism*; D006801:Humans; D007231:Infant, Newborn; D008661:Metabolism, Inborn Errors / Q000201:enzymology*; D008928:Mitochondria / Q000378:metabolism*; D010084:Oxidation-Reduction
D005227:Fatty Acids; D044942:Acyl-CoA Dehydrogenase, Long-Chain