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Enzyme. 1987;38(1-4):115-23.

Chemical diagnosis of inherited defects of fatty acid metabolism and ketogenesis.

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University Children's Hospital Het Wilhelmina Kinderziekenhuis, Utrecht, The Netherlands.


Urinary organic acid profiles in patients with inherited defects of fatty acid metabolism and ketogenesis are described. Medium-chain acyl-CoA dehydrogenase, short-chain acyl-CoA dehydrogenase, multiple acyl-CoA dehydrogenase, and 3-hydroxy-3-methyl-glutaryl-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 omega-oxidation of long chain fatty acids.

[Indexed for MEDLINE]

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