Université Paris Descartes, Hôpital Necker-Enfants Malades et Inserm U781 et U797, Départements de Génétique, de Radiologie pédiatrique, des Maladies Métaboliques et de Biochimie B, Paris F-75015, France.
Mitochondrion. 2010 Jun;10(4):335-41. doi: 10.1016/j.mito.2010.02.006. Epub 2010 Mar 1.
Deficiencies in two subunits of the succinyl-coenzyme A synthetase (SCS) have been involved in patients with encephalomyopathy and mild methylmalonic aciduria (MMA). In this study, we described three new SUCLG1 patients and performed a meta-analysis of the literature. Our report enlarges the phenotypic spectrum of SUCLG1 mutations and confirms that a characteristic metabolic profile (presence of MMA and C4-DC carnitine in urines) and basal ganglia MRI lesions are the hallmarks of SCS defects. As mitochondrial DNA depletion in muscle is not a constant finding in SUCLG1 patients, this may suggest that diagnosis should not be based on it, but also that alternative physiopathological mechanisms may be considered to explain the combined respiratory chain deficiency observed in SCS patients.
琥珀酰辅酶 A 合成酶（SCS）的两个亚基缺陷与伴有脑肌病和轻度甲基丙二酸尿症（MMA）的患者有关。在这项研究中，我们描述了三位新的 SUCLG1 患者，并对文献进行了荟萃分析。我们的报告扩大了 SUCLG1 突变的表型谱，并证实特征性代谢谱（尿液中存在 MMA 和 C4-DC 肉碱）和基底节 MRI 病变是 SCS 缺陷的标志。由于肌肉中线粒体 DNA 耗竭并非 SUCLG1 患者的常见发现，这可能表明不应基于此进行诊断，还可能需要考虑其他病理生理机制来解释在 SCS 患者中观察到的联合呼吸链缺陷。
