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

Annals of Neurology
A H SmeltA R Wintzen

Abstract

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.

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Citations

Jun 17, 2009·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Essam F Elsayed, Robert F Reilly
Feb 5, 2000·Neurologic Clinics·G D Vladutiu
Sep 6, 2002·Pediatric Neurology·Rachel Straussberg, Arnold W Strauss
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Feb 12, 2009·Muscle & Nerve·Oleg ShchelochkovMarwan Shinawi
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Nov 18, 2005·Neuromuscular Disorders : NMD·N C VoermansB G van Engelen
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Aug 20, 2016·Journal of the Neurological Sciences·Fumiko YamamotoAkira Tamaoka
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Jul 26, 2000·Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association·A P CairnsJ H Brown
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Feb 5, 2000·Neurologic Clinics·W S David

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