Methioninemia and myopathy: A new disorder
Methioninemia and myopathy: A new disorder
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蛋氨酸血症和肌病：一种新疾病
DOI：
10.1002/ana.410090503
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发表时间：
1981
影响因子：
11.2
通讯作者：
F. Schaffner
中科院分区：
文献类型：
--
作者：
G. Gaull;A. Bender;Dimitrije Vulovic;H. Tallan;F. Schaffner
一个7岁半的女孩患有高甲硫氨酸血症，肌病和智力缺陷（智商= 65）。甲硫氨酸的增加与甲硫氨酸腺苷转移酶的缺乏无关，而甲硫氨酸腺苷转移酶在肝脏、肌肉、红细胞和培养的成纤维细胞中是正常的或增加的。成纤维细胞中的甲硫氨酰-tRNA合成酶正常。高甲硫氨酸血症和同时增加的血液S-腺苷甲硫氨酸在低甲硫氨酸饮食中下降。存在弥漫性、对称性、中度近端肌无力，但肌肉萎缩不可辨别，深部腱反射减退但可获得。未检测到肌电图异常。肌肉的电子显微镜显示，在几乎每根纤维的I带区域有3至6个小的髓鞘图形，在其他部位也有偶尔的髓鞘图形。这些髓鞘数字更多，更小，比那些看到伴随非特异性，可能反映了一个更具体的病理变化。肝脏电子显微镜检查发现所有肝细胞中存在三种非特异性病变：（1）大量巨线粒体，基质中有晶体存款;（2）滑面内质网小泡数量增加;（3）质膜微绒毛丢失，伴有广泛的气泡形成，细胞质脱落到Disse间隙中。
A 7½‐year‐old girl with hypermethioninemia, myopathy, and mental deficiency (IQ = 65) is described. The increased methionine was not associated with deficiency of methionine adenosyltransferase, which was normal or increasedin liver, muscle, erythrocytes, and cultured fibroblasts. Methionyl‐tRNA synthetase in fibroblasts was normal. The hypermethioninemia and a concurrently increased blood S‐adenosylmethionine declined on a diet low in methionine. There was a diffuse, symmetrical, moderate proximalmuscle weakness, but muscle atrophy was not discernible, and the deep tendon reflexes were hypoactive but obtainable. Electromygraphic abnormalites were not detected. Electron microscopy of muscle revealed 3 to 6 small myelin figures in the region of the I band in nearly every fiber, with occasional myelin figures at other sites also. These myelin figures were more numerous and smaller than those seen accompanying nonspecific and may reflect a more specific pathological change. Electron microscopy of liver revealed three nonspecific lesions in all hepatocytes: (1) numerous megamitochondria with crystalloid deposit in the matrix; (2) increased numbers of small vesicles of smooth endoplasmic reticulum; and (3) loss of plasma membrane microvilli, with extensive bleb for formation and shedding of eytoplasm into Disse's space.