Abstract
The production of tritiated water from [9,10-3H]myristic acid can be used as a screening assay for the detection of medium-chain acyl-CoA dehydrogenase deficiency, multiple acyl-CoA dehydrogenation defects (glutaric aciduria type 2 and ethylmalonic-adipic aciduria types), and some types of hydroxydicarboxylic aciduria. Comparison with the release of tritiated water from [9,10-3H]palmitic acid may give an indication of the chain-length specificity of the metabolic defect. In a case of ethylmalonic-adipic aciduria such a prediction has been confirmed by examination of accumulated intermediates in the affected fibroblasts.
Publication types
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Comparative Study
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Research Support, Non-U.S. Gov't
MeSH terms
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Acyl-CoA Dehydrogenase
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Acyl-CoA Dehydrogenases / deficiency
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Carnitine O-Palmitoyltransferase / deficiency
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Cells, Cultured
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Dicarboxylic Acids / urine
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Fatty Acids / metabolism*
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Fibroblasts / metabolism
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Humans
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Lipid Metabolism, Inborn Errors / diagnosis*
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Lipid Metabolism, Inborn Errors / metabolism
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Myristic Acid
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Myristic Acids* / metabolism
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Oxidation-Reduction
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Palmitic Acid
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Palmitic Acids* / metabolism
Substances
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Dicarboxylic Acids
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Fatty Acids
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Myristic Acids
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Palmitic Acids
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Myristic Acid
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Palmitic Acid
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Acyl-CoA Dehydrogenases
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Acyl-CoA Dehydrogenase
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Carnitine O-Palmitoyltransferase