Glycogen storage disease, Fanconi nephropathy, abnormal galactose metabolism and mitochondrial myopathy
Glycogen storage disease, Fanconi nephropathy, abnormal galactose metabolism and mitochondrial myopathy
复制标题
糖原累积病、范可尼肾病、半乳糖代谢异常和线粒体肌病
DOI：
10.1007/bf02024334
复制
发表时间：
1989
影响因子：
3.6
通讯作者：
D. Branski
中科院分区：
文献类型：
--
作者：
H. Hurvitz;O. Elpeleg;V. Barash;E. Kerem;R. Reifen;W. Ruitenbeek;C. Mor;D. Branski
我们介绍了一名 4 岁男性，患有严重的肌肉无力、酶学未明确的糖原储存病。范可尼肾病和半乳糖利用受损。在肌肉组织中发现了扭曲的线粒体、线粒体内脂肪滴以及丙酮酸脱氢酶复合物、琥珀酸：细胞色素c氧化还原酶和细胞色素c氧化酶的部分缺陷。讨论了线粒体肌病、糖原累积病、范可尼肾病和半乳糖利用受损之间的因果关系。
We present a 4-year-old male suffering from profound muscular weakness, enzymatically undefined glycogen storage disease. Fanconi nephropathy and impaired galactose utilization. Distorted mitochondria, intramitochondrial fat droplets and partial deficiencies of pyruvate dehydrogenase complex, succinate: cytochrome c oxidoreductase, and cytochrome c oxidase have been found in muscle tissue. The causal relationship between mitochondrial myopathy, glycogen storage disease, Fanconi nephropathy and impaired utilization of galactose is discussed.