Summary
In five subjects with methylmalonic acidaemia (MMA) and five with propionic acidaemia (PA) both the level of odd-numbered fatty acids (OLCFA) in erythrocyte lipids and the excretion of propionate-derived metabolites in urine were longitudinally analysed. At a given intake of amino acid precursors of propionyl-CoA and otherwise stable metabolic conditions, subjects with MMA excreted considerably more propionate-derived metabolites, and accumulated less OLCFA in erythrocyte lipids than subjects with PA. We suggest that renal metabolite excretion indicates the efflux of organic acids from cells and might be a measure of the individually determined intracellular relief from toxic acyl-CoA esters. It does not necessarily reflect the total amount of acyl-CoA intermediates produced in the body. OLCFA levels seem to reflect the continuous burden of propionyl-CoA toxicity within the cells and thereby might serve as a reliable tool for evaluating the quality of long-term metabolic control in these disorders.
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Wendel, U., Eißler, A., Sperl, W. et al. On the differences between urinary metabolite excretion and odd-numbered fatty acid production in propionic and methylmalonic acidaemias. J Inherit Metab Dis 18, 584–591 (1995). https://doi.org/10.1007/BF02436003
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DOI: https://doi.org/10.1007/BF02436003