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Very long chain acyl‐coenzyme A dehydrogenase deficiency with adult onset
Author(s) -
Smelt A. H. M.,
Poorthuis B. J. H. M.,
Onkenhout W.,
Scholte H. R.,
Andresen B. S.,
van Duinen S. G.,
Gregersen N.,
Wintzen A. R.
Publication year - 1998
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410430422
Subject(s) - acyl coa dehydrogenase , coenzyme a , dehydrogenase , cofactor , medicine , biochemistry , enzyme , biology , reductase
Very long chain acyl‐coenzyme A (acyl‐CoA) dehydrogenase (VLCAD) deficiency is a severe disorder of mitochondrial β‐oxidation in infants. We report adult onset of attacks of painful rhabdomyolysis. Gas chromatography identified stongly 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.