Tsuchiyama A, Oyanagi K, Nakata F, Uetsuji N, Tsugawa S, Nakao T, Mori M
Tohoku J Exp Med. 1982 Nov;138(3):281-8. doi: 10.1620/tjem.138.281.
Eleven hypermethioninemic patients were found by mass screening tests of neonates. Three of these had persistent hypermethioninemia while in the others it was transient. Serum concentrations of methionine were constantly higher than those of controls, especially in the persistent group. The enzyme activities of methionine adenosyltransferase in the liver tissues of both groups of patients were within normal limits. Serum concentrations of total folate in the persistent group were strikingly elevated and fatty degeneration of the liver tissues was a constant feature. It improved after several months under a low-methionine diet. The hypermethioninemia reported here is not associated with any clinical or biochemical finding reported previously.
通过新生儿大规模筛查试验发现了11名高蛋氨酸血症患者。其中3名患者患有持续性高蛋氨酸血症，而其他患者的高蛋氨酸血症是短暂性的。患者血清蛋氨酸浓度始终高于对照组，尤其是持续性高蛋氨酸血症组。两组患者肝脏组织中蛋氨酸腺苷转移酶的酶活性均在正常范围内。持续性高蛋氨酸血症组患者血清总叶酸浓度显著升高，肝脏组织脂肪变性是其恒定特征。在低蛋氨酸饮食下几个月后情况有所改善。本文报道的高蛋氨酸血症与先前报道的任何临床或生化发现均无关联。
