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Combined enzyme defect of mitochondrial fatty acid oxidation.
S Jackson, … , D Gardner-Medwin, D M Turnbull
S Jackson, … , D Gardner-Medwin, D M Turnbull
Published October 1, 1992
Citation Information: J Clin Invest. 1992;90(4):1219-1225. https://doi.org/10.1172/JCI115983.
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Research Article

Combined enzyme defect of mitochondrial fatty acid oxidation.

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Abstract

A young girl presented with recurrent episodes of muscle weakness culminating in a severe attack of generalized muscle weakness. In the muscle mitochondria from the patient there was an abnormal pattern of intermediates of beta-oxidation with an accumulation of 3-hydroxyacyl- and 2-enoyl-CoA and carnitine esters, and 3-oxoacylcarnitines. There was low activity of long-chain 3-hydroxyacyl-CoA dehydrogenase in mitochondria from all tissues. The activity of long-chain 2-enoyl-CoA hydratase was low in muscle mitochondria and 3-oxoacyl-CoA thiolase activity measured with 3-oxohexadecanoyl-CoA as substrate was low in fibroblast, muscle, and cardiac mitochondria but only partial deficiency was present when the activity was measured with 3-oxooctanoyl-CoA. The activity of the long-chain 3-hydroxyacyl-CoA dehydrogenase and long-chain 3-oxoacyl-CoA thiolase in fibroblasts from the patient's parents was intermediate between those of controls and the patient. The patient has a combined defect of the long-chain 3-hydroxyacyl-CoA dehydrogenase, long-chain 3-oxoacyl-CoA thiolase, and long-chain 2-enoyl-CoA hydratase which appears to be inherited in an autosomal recessive manner. This suggests there is a multifunctional enzyme catalyzing these activities in human mitochondria and that this enzyme is deficient in our patient.

Authors

S Jackson, R S Kler, K Bartlett, H Briggs, L A Bindoff, M Pourfarzam, D Gardner-Medwin, D M Turnbull

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