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These include carnitine palmitoyltransferases I and II, a carnitine\u2010acylcarnitine translocase and, newly discovered, very long\u2010chain acyl\u2010CoA dehydrogenase and the mitochondrial trifunctional protein. These last two chain\u2010shorten acyl\u2010CoA esters to the point where they can be transferred to the more soluble medium\u2010 and short\u2010chain\u2010specific enzymes within the mitochondrial matrix. The disorders of long\u2010chain fatty acid oxidation show a rather similar range of clinical and biochemical features, though with different emphasis in the different conditions. Patients with severe defects usually present early with acute attacks of hypoketotic hypoglycaemia and impaired liver function, or with cardiomyopathy or cardiac arrhythmia. In milder variants, skeletal myopathy with intermittent myoglobinuria develops later in life. 3\u2010Hydroxyacyl\u2010CoA dehydrogenase deficiency is unusual in producing peripheral neuropathy and retinitis pigmentosa. Treatment is based on the avoidance of fasting and replacement of normal dietary fat by medium\u2010chain triglyceride, the medium\u2010chain fatty acids entering the mitochondria in a carnitine\u2010independent manner and bypassing the long\u2010chain part of the spiral. Diagnosis must ultimately be based on direct assay of the enzyme involved, but preliminary indicators may come from determination of carnitine and intermediate metabolites in plasma, urinary organic acid profiling, and radioisotopic screening assays with lymphocytes or cultured fibroblasts.<\/jats:p>","DOI":"10.1007\/bf00710058","type":"journal-article","created":{"date-parts":[[2004,11,30]],"date-time":"2004-11-30T18:52:45Z","timestamp":1101840765000},"page":"473-490","source":"Crossref","is-referenced-by-count":66,"title":["Disorders of mitochondrial long\u2010chain fatty acid oxidation"],"prefix":"10.1002","volume":"18","author":[{"given":"R. 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