Rosenfeld E L, Chibisov I V, Chistova L V, Leontjev A F, Karmansky I M
Clin Chim Acta. 1978 Jun 15;86(3):295-9. doi: 10.1016/0009-8981(78)90384-4.
Two patients with apparent clinical manifestations of glycogen storage disease were described. The curves obtained upon glucose and adrenalin tolerance tests were indicative of glycogen storage disease Type I. Liver biopsies showed the increased glycogen concentration; however, the activities of the enzymes involved in glycogen metabolism, including glucose-6-phosphatase activity, were within normal limits or even slightly enhanced. On the basis of the biochemical data, Type Ib glycogenosis was diagnosed. The analytical ultracentrifugation studies of serum lipoproteins of those patients showed that concentration of very low density lipoproteins was considerably increased.
描述了两名具有糖原贮积病明显临床表现的患者。葡萄糖和肾上腺素耐量试验所得曲线表明为I型糖原贮积病。肝活检显示糖原浓度增加;然而,参与糖原代谢的酶的活性,包括葡萄糖-6-磷酸酶活性,在正常范围内或甚至略有增强。根据生化数据,诊断为Ib型糖原贮积病。对这些患者血清脂蛋白的分析超速离心研究表明,极低密度脂蛋白的浓度显著增加。