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首页> 外文期刊>Journal of Clinical Medicine >The Relationship between Mitochondrial Respiratory Chain Activities in Muscle and Metabolites in Plasma and Urine: A Retrospective Study
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The Relationship between Mitochondrial Respiratory Chain Activities in Muscle and Metabolites in Plasma and Urine: A Retrospective Study

机译：肌肉线粒体呼吸链活性与血浆和尿液代谢产物之间的关系的回顾性研究

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The relationship between 114 cases with decreased enzymatic activities of mitochondrial respiratory chain (MRC) complexes I-V (C I-V) in muscle and metabolites in urine and plasma was retrospectively examined. Less than 35% disclosed abnormal plasma amino acids and acylcarnitines, with elevated alanine and low free carnitine or elevated C4-OH-carnitine as the most common findings, respectively. Abnormal urine organic acids (OA) were detected in 82% of all cases. In CI and CII defects, lactic acid (LA) in combination with other metabolites was the most common finding. 3-Methylglutaconic (3MGA) acid was more frequent in CIV and CV, while Tyrosine metabolites, mainly 4-hydroxyphenyllactate, were common in CI and IV defects. Ketones were present in all groups but more prominent in combined deficiencies. There was a significant strong correlation between elevated urinary LA and plasma lactate but none between urine Tyrosine metabolites and plasma Tyrosine or urinary LA and plasma Alanine. All except one of 14 cases showed elevated FGF21, but correlation with urine OA was weak. Although this study is limited, we conclude that urine organic acid test in combination with plasma FGF21 determination are valuable tools in the diagnosis of mitochondrial diseases.
机译：回顾性分析114例肌肉中线粒体呼吸链（MRC）复合物I-V（C I-V）酶活性与尿液和血浆中代谢产物之间酶学活性的关系。少于35％的人发现血浆氨基酸和酰基肉碱异常，最常见的发现分别是丙氨酸升高和游离肉碱降低或C4-OH-肉碱升高。在所有病例中，有82％检出尿有机酸（OA）异常。在CI和CII缺陷中，乳酸（LA）与其他代谢物的结合是最常见的发现。 CIV和CV中3-甲基戊二酸（3MGA）的频率更高，而CI和IV缺陷中酪氨酸代谢产物（主要是4-羟基苯基乳酸）则很常见。酮存在于所有组中，但在综合缺陷中更为突出。尿中乳酸水平升高与血浆乳酸水平之间存在显着的强相关性，而尿中酪氨酸代谢产物与血浆酪氨酸水平或尿中乳酸和血浆丙氨酸之间无明显相关性。除14例中的1例以外，其余所有均显示FGF21升高，但与尿液OA的相关性较弱。尽管这项研究有限，但我们得出的结论是，尿中有机酸检测结合血浆FGF21的测定是诊断线粒体疾病的有价值的工具。

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