Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency: Different clinical expression in three unrelated patients

β-Oxidation Enzymes in Fibroblasts from Patients with 3-Hydroxydicarboxylic Aciduria

“…Defects of several enzymes of p-oxidation such as the long-chain, medium-chain, and short-chain acyl-CoA dehydrogenases have been described (1, 2). Recent studies on 3-hydroxydicarboxylic aciduria showed that many but not all of the patients who are characterized by the massive excretion of 3-hydroxydicarboxylic acids have deficient activity of the mitochondrial LCHAD (3)(4)(5)(6)(7)(8)(9)(10)(11)(12). Moreover, LCHAD seems to be associated with a trifunctional enzyme having also enoyl-CoA hydratase and 3-ketoacyl-CoA thiolase activity (13)(14)(15).…”

“…The clinical features described in these patients include hypoglycemia, myopathy, cardiomyopathy, fatty infiltration of the liver, peripheral neuropathy, and pigmentary retinopathy (3)(4)(5)(6)(7)(8)(9)(10)(11)(12). In this report, assays of 3-hydroxyacyl-CoA dehydrogenase, enoyl-CoA hy-sible for the 3-hydroxyacyl-CoA dehydrogenase as well as for the hydratase and thiolase activities.…”

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: A severe fatty acid oxidation disorder

“…All patients including ours had hypoketotic hypoglycaemia and hypotonia. Hepatopathy was present in all patients except that of Dionisi-Vici et al [5], cardiomyopathy being a leading symptom in all patients except case two of Wanders et al [32]. The three patients who were diagnosed at a later date appeared to do well despite having cardinal symptoms.…”

“…LCHAD deficiency has been shown to be associated with lethal cardiomyopathy in childhood [23] and to date over ten patients have been described [1,5,6,13,15,16,20,21,31,32]. We describe a further new case in comparison to those previously published addressing the presenting clinical features and diagnostic possibilities together with appropriate treatment modalities.…”