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At present only the acyl\u2010CoA dehydrogenase step of the \u03b2\u2010oxidation spiral has been explored in any detail and a large number of patients have disorders that cannot be properly characterized. \u03b2\u2010Oxidation defects may present in a wide variety of ways, the most dramatic being acute encephalopathy with hepatic involvement (atypical Reye's syndrome) or \u2018sudden\u2019 death. Investigations may include urinary and plasma organic acids, metabolic stress tests and assays of overall metabolic pathways or of specific enzymes in cultured fibroblasts, lymphocytes, or other material. Early postnatal diagnosis presents particular difficulties but in medium\u2010chain acyl\u2010CoA dehydrogenase deficiency the diagnosis may be apparent from careful examination of urine. There is as yet little general experience in prenatal diagnosis of this group of disorders except for glutaric aciduria type II. Single prenatal diagnoses of medium\u2010chain acyl\u2010CoA dehydrogenase deficiency and of an incompletely characterized defect of medium\u2010chain fatty acid oxidation have been performed.<\/jats:p>","DOI":"10.1007\/bf01799297","type":"journal-article","created":{"date-parts":[[2005,6,21]],"date-time":"2005-06-21T17:33:36Z","timestamp":1119375216000},"page":"215-230","source":"Crossref","is-referenced-by-count":23,"title":["Disorders of mitochondrial \u03b2\u2010oxidation: Prenatal and early postnatal diagnosis and their relevance to Reye's syndrome and sudden infant death"],"prefix":"10.1002","volume":"12","author":[{"given":"R. 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