Wendel U, Eissler A, Sperl W, Schadewaldt P
Kinderklinik, Heinrich-Heine-Universität Düsseldorf, Germany.
J Inherit Metab Dis. 1995;18(5):584-91. doi: 10.1007/BF02436003.
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.
对5例甲基丙二酸血症（MMA）患者和5例丙酸血症（PA）患者，纵向分析了红细胞脂质中奇数链脂肪酸（OLCFA）水平及尿中丙酸衍生代谢产物的排泄情况。在给定丙酰辅酶A氨基酸前体摄入量及其他代谢条件稳定的情况下，与PA患者相比，MMA患者排泄的丙酸衍生代谢产物多得多，且排泄红细胞脂质中积累的OLCFA较少。我们认为，肾脏代谢产物排泄表明有机酸从细胞中流出，可能是个体确定的细胞内从有毒酰基辅酶A酯中释放的一种度量。它不一定反映体内产生的酰基辅酶A中间产物的总量。OLCFA水平似乎反映了细胞内丙酰辅酶A毒性的持续负担，因此可能是评估这些疾病长期代谢控制质量的可靠工具。
