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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Very long chain acyl-coenzyme A dehydrogenase deficiency with adult onset.

Very long chain acyl-coenzyme A (acyl-CoA) dehydrogenase (VLCAD) deficiency is a severe disorder of mitochondrial beta-oxidation in infants. We report adult onset of attacks of painful rhabdomyolysis. Gas chromatography identified strongly elevated levels of tetradecenoic acid, 14:1(n-9), tetradecadienoic acid, 14:2(n-6), and hexadecadienoic acid, 16:2(n-6). Palmitoyl-CoA and behenoyl-CoA dehydrogenase in fibroblasts were deficient. Muscle VLCAD activity was very low. DNA analysis revealed compound heterozygosity for two missense mutations in the VLCAD gene. The relatively mild clinical course may be due to residual enzyme activity as a consequence of the two missense mutations. Treatment with L-carnitine and medium chain triglycerides in the diet did not reduce the attacks of rhabdomyolysis.[1]


  1. Very long chain acyl-coenzyme A dehydrogenase deficiency with adult onset. Smelt, A.H., Poorthuis, B.J., Onkenhout, W., Scholte, H.R., Andresen, B.S., van Duinen, S.G., Gregersen, N., Wintzen, A.R. Ann. Neurol. (1998) [Pubmed]
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