Abstract
TANAKA, Isselbacher and colleagues1 have described an inherited metabolic defect, isovalericacidaemia, which, though not fatal in their patients, leads, if untreated, to mental retardation and episodes of convlusion. As the name implies, the condition is characterised by high levels of isovaleric acid in the plasma. During periods of remission, this compound, which arises from the breakdown of dietary leucine, is excreted as a glycine conjugate. From the fact that only isovaleric acid accumulates and not butyric acid (from fat oxidation) or isobutyric or α-methyl butyric acids (from valine and isoleucine breakdown) Tanaka et al.1 have concluded that there must be a specific isovaleryl CoA dehydrogenase that is non-functional in isovalericacidaemia. It had been assumed previously2 that straight and branched-chain fatty acyl CoA compounds alike were oxidised by the green (that is, short-chain) acyl CoA dehydrogenase (see Fig. 1).
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ENGEL, P. Possibility of inborn defect in isovalericacidaemia involving altered enzyme specificity rather than total inactivity. Nature 248, 140–142 (1974). https://doi.org/10.1038/248140a0
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DOI: https://doi.org/10.1038/248140a0
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