Creatine metabolism in combined methylmalonic aciduria and homocystinuria
Creatine metabolism in combined methylmalonic aciduria and homocystinuria
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DOI：
10.1002/ana.20419
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发表时间：
2005-04-01
影响因子：
11.2
通讯作者：
Scaglia, F
中科院分区：
文献类型：
--
作者：
Bodamer, OA;Sahoo, T;Scaglia, F
甲基化是包括肌酸生物合成在内的许多基本生物过程的一个重要方面。我们研究了5例先天性钴胺素代谢错误的患者，以表征同型半胱氨酸和肌酸代谢之间的关系。血浆胍丁酯浓度升高，为14.9 +/- 4.8 μ mol/L (p < 0.0001)，而血浆肌酸浓度在低参考范围内，为43.8 +/- 20.7 μ mol/L （p =无统计学意义）。合并甲丙二酸尿症的个体。同型半胱氨酸尿有肌酸合成途径的功能损伤可能继发于不稳定甲基的相对消耗。胍丁酯的神经毒性作用可能是观察到的神经表型的部分原因。
Methylation is an important aspect of many fundamental biological processes including creatine biosynthesis. We studied five patients with an inborn error of cobalamin metabolism to characterize the relation between homocysteine and creatine metabolism. Plasma guanidinoacetate concentrations were increased, 14.9 +/- 4.8 mu mol/L (p < 0.0001), whereas plasma creatine concentrations were in the low reference range, 43.8 +/- 20.7 mu mol/L (P = not significant). Individuals with combined methy-malonic aciduria. and homocystinuria have a functional impairment of the creatine synthetic pathway probably secondary to a relative depletion of labile methyl groups. The neurotoxic effects of guanidinoacetate may be partly responsible for the observed neurological phenotype.