Kobayashi A, Nishinomiya F, Fukamachi Y, Ohtaka M, Yamamoto J, Takagi K, Tanaka S, Takizawa S, Imadachi H, Fukase M
Shounai Amarume Hospital, Japan.
Tohoku J Exp Med. 1995 Jul;176(3):181-5. doi: 10.1620/tjem.176.181.
We present a 26-year-old woman with glycogen storage disease type III (debranching enzyme deficiency) complicated with liver cirrhosis and hypertrophic cardiomyopathy. Glycogen debranching enzyme has two catalytic sites, oligo-1,4,-1,4- glucantransferase (EC 2.4.1.25) and amylo-1,6-glucosidase (EC 3.2.1.33). Variability in the clinical phenotype could be a function of the involvement of one or other catalytic site, or differences in tissue expression of the defective enzyme, or both. We hypothesize that some subtypes of glycogen storage disease (GSD) type III may cause liver cirrhosis as seen in GSD type IV due to the accumulation of glycogen of abnormal structure.
我们报告一名26岁女性，患有III型糖原贮积病（脱支酶缺乏症），并发肝硬化和肥厚型心肌病。糖原脱支酶有两个催化位点，即寡聚-1,4-1,4-葡聚糖转移酶（EC 2.4.1.25）和淀粉-1,6-葡萄糖苷酶（EC 3.2.1.33）。临床表型的变异性可能是由于一个或另一个催化位点受累、缺陷酶的组织表达差异或两者兼而有之。我们推测，III型糖原贮积病（GSD）的某些亚型可能会像IV型GSD那样，由于异常结构糖原的积累而导致肝硬化。
