Chemical Diagnosis of Inherited Defects of Fatty Acid Metabolism and Ketogenesis

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Abstract
Urinary organic acid profiles in patients with inherited defects of fatty acid metabolism and ketogenesis are described. Medium-chain acyl-CoA dehydrogenase, shortchain acyl-CoA dehydrogenase, multiple acyl-CoA dehydrogenase, and 3-hydroxy-3-methylglutaryl- CoA lyase deficiencies can be recognized at the metabolite level. Data on long-chain acyl-CoA dehydrogenase and systemic carnitine deficiencies are scarce. In the latter disorders, dicarboxylic aciduria is rather nonspecific and points to a modest co-oxidation of long chain fatty acids.

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