Abstract
ABSTRACT: The activities of 3-hydroxyacyl-CoA dehydrogenase, enoyl-CoA hydratase, and 3-ketoacyl-CoA thiolase were measured in fibroblasts from eight patients with 3-hydroxydicarboxylic aciduria. Measurement of 3-hydroxyacyl-CoA dehydrogenase with 3-ketopalmitoyl-CoA as substrate provided conclusive evidence for a deficiency of the long-chain 3-hydroxyacyl-CoA dehydrogenase in seven of the patients. Measurement of the enzyme in the normal direction cannot be recommended because this gives a higher residual activity. A trifunctional enzyme protein is responsible for the 3-hydroxyacyl-CoA dehydrogenase as well as for the hydratase and thiolase activities. A slight decrease in one or both of the other two activities was observed in four of the seven deficient patients, indicating that a defect in the trifunctional enzyme protein may affect the three enzyme activities to different degrees.
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Venizelos, N., Ijlst, L., Wanders, R. et al. β-Oxidation Enzymes in Fibroblasts from Patients with 3-Hydroxydicarboxylic Aciduria. Pediatr Res 36 (Suppl 1), 111–114 (1994). https://doi.org/10.1203/00006450-199407001-00020
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DOI: https://doi.org/10.1203/00006450-199407001-00020
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