PMID: 8598639Jan 1, 1995Paper

On the differences between urinary metabolite excretion and odd-numbered fatty acid production in propionic and methylmalonic acidaemias

Journal of Inherited Metabolic Disease
U WendelP Schadewaldt

Abstract

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 excretion 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.

References

May 1, 1991·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·K H MolteniA L Friedman
Apr 1, 1991·Biochemical Medicine and Metabolic Biology·T MatsuishiK Chrislip
Feb 1, 1991·European Journal of Pediatrics·C T D'AngioJ V Leonard
Mar 1, 1990·European Journal of Pediatrics·G N ThompsonD Halliday
Jan 1, 1985·Journal of Inherited Metabolic Disease·D NeyW L Nyhan
Oct 1, 1972·Proceedings of the National Academy of Sciences of the United States of America·T AndoD Hull
Jun 1, 1984·The Journal of Clinical Investigation·C R RoeC L Hoppel

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Citations

Jan 14, 1998·Journal of Inherited Metabolic Disease·T DecsiB Koletzko
Oct 1, 1996·Prenatal Diagnosis·M CokerJ G Huijmans
Sep 4, 1998·Pediatric Research·M Terán-GarcíaA Velázquez
Jun 19, 2002·Seminars in Neonatology : SN·H Ogier de Baulny, J M Saudubray

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