Lück R, Platt D, Lange R H, Kunze K
Z Kinderheilkd. 1975 Jul 1;120(1):19-28.
The clinical, biochemical, morphological and electrophysiological findings in a 13-month-old child, who died of glycogenosis type II, is presented. In addition to the deficiency of alpha-1,4-glucosidase, which is typical for the disease, a deficiency in hyaluronidase could be detected for the first time in the skeletal and heart muscles and in the liver. On the other hand, the beta-glucoronidase and beta-acetylglucosaminidase activity was highly increased. Deposits of a substance, most probably an acid mucopolysaccharide, which could be differentiated from glycogen by chromography and electronmicroscopy, could be detected in the muscle. A pathogenetical connection with the hyaluronidase defect is imminent.
本文报告了一名13个月大死于II型糖原贮积病患儿的临床、生化、形态学和电生理检查结果。除了该病典型的α-1,4-葡萄糖苷酶缺乏外，首次在骨骼肌、心肌和肝脏中检测到透明质酸酶缺乏。另一方面，β-葡萄糖醛酸酶和β-乙酰氨基葡萄糖苷酶活性显著升高。在肌肉中可检测到一种物质的沉积，很可能是一种酸性粘多糖，通过色谱法和电子显微镜可将其与糖原区分开来。与透明质酸酶缺陷的发病机制联系迫在眉睫。
