Article
Myopathy in very-long-chain acyl-CoA dehydrogenase deficiency: clinical and biochemical differences with the fatal cardiac phenotype.
Neuromuscular disorders : NMD - 1 Jul 1999
Scholte H R, Van Coster R N, de Jonge P C, Poorthuis B J, Jeneson J A, Andresen B S, Gregersen N, de Klerk J B, Busch H F
Abstract excerpt
A 30-year-old man suffered since the age of 13 years from exercise induced episodes of intense generalised muscle pain, weakness and myoglobinuria. Fasting ketogenesis was low, while blood glucose remained normal. Muscle mitochondria failed to oxidise palmitoylcarnitine. Palmitoyl-CoA dehydrogenase was deficient in muscle and fibroblasts, consistent with deficiency of very-long-chain acyl-CoA dehydrogenase...
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