Liver disease in the Ashkenazi-Jewish lipoamide dehydrogenase deficiency
Liver disease in the Ashkenazi-Jewish lipoamide dehydrogenase deficiency
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DOI：
10.1097/00005176-199705000-00019
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发表时间：
1997-05-01
影响因子：
2.9
通讯作者：
Elpeleg, ON
中科院分区：
文献类型：
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作者：
Aptowitzer, I;Saada, A;Elpeleg, ON
线粒体酶的先天性缺陷可能会影响肝脏，尤其是在代谢失代偿期间。脂肪浸润在大多数脂肪酸氧化缺陷中很常见，门脉纤维化见于某些尿素循环障碍，mtDNA缺失的患者可能出现肝功能衰竭（1-3）。已报道的肝脏参与氧化磷酸化的其他缺陷是复合物III或复合物IV（细胞色素c氧化酶）缺陷和mtDNA缺失（皮尔逊综合征）（4）。据我们所知，丙酮酸脱氢酶复合物（PDHc）缺乏症患者从未报道过明显的肝脏受累。
Inborn errors of mitochondrial enzymes may affect the liver, especially during metabolic decompensation episodes. Fatty infiltration is common in most fatty acid oxidation defects, portal fibrosis is seen in some of the urea cycle disorders, and patients with mtDNA depletion may present with liver failure (1-3). Other defects of oxidative phosphorylation in which liver involvement has been reported are complex III or complex IV (cytochrome c oxidase) deficiency and mtDNA deletion (Pearson's syndrome)(4). To the best of our knowledge, prominent liver involvement has never been reported in patients with pyruvate dehydrogenase complex (PDHc) deficiency.