Fatty Acid Oxidation Disorders

Besides the mitochondrial enzyme defects characterized by disordered oxidative phosphorylation, 12 disorders of fatty acid oxidation and ketogenesis are known ( Table, ^..^ ).[69] Medium-, long-, and short-chain acyl-CoA dehydro- genase deficiencies (MCAD, LCAD, SCAD) are caused by defects of the beta-oxidation spiral; the rest, except long- chain l-3 hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency, are due to defects in the carnitine cycle.

In these disorders there are three main presentations: (1) acute toxic encephalopathy with episodes of nonketotic hypoglycemia in the first 2 years of life provoked by fasting (MCAD), (2) skeletal and/or cardiac myopathies with weakness (carnitine palmitoyl transferase [CPI] I and II deficiencies, LCAD, LCHAD, SCAD) and low plasma carnitine, and (3) the syndrome of nonketotic hypoglycemia plus very low plasma carnitine levels (<10 pM) and absent dicarboxylicaciduria (carnitine transport defect). Ihe general


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