CLINICAL AND BIOCHEMICAL PRESENTATION OF LONG-CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE-DEFICIENCY

Interest in inherited defects in the later steps of mitochondrial beta-oxidation started with the observation of patients with a 3-hydroxydicarboxylic aciduria (Pollitt et al 1987; Hagenfeldt et al 1990). Most of these patients were later shown to be deficient in the long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) activity. Meanwhile, investigations of this enzyme activity in human liver showed that it resides in a trifunctional protein that also harbours enoyl-CoA hydratase and 3-oxoacyl-CoA thiolase activities (Carpenter et al 1992). It has recently been demonstrated that many patients with LCHAD deficiency also have a decrease in one or both of the other two activities of the trifunctional protein (Kamijo et al 1994; Venizelos et al 1994).