Potter J L, Robinson H B, Kramer J D, Schafter I A
Clin Chem. 1980 Dec;26(13):1914-5.
We present a case of glycogen storage disease type II (Pompe's disease) with the classical clinical presentation and characteristic electrocardiographic changes of this disorder. An acid maltase (EC 3.2.1.20) determination in the peripheral leukocytes revealed normal activity; however, acid maltase activity was completely absent in a pre-mortem skeletal muscle biopsy. Post-mortem studies showed acid maltase activity to be absent in all tissues examined, including cultured skin fibroblasts. Massive glycogen deposition corresponded to the localization of the enzymic deficiency, except in the brain, where glycogen content was within the normal range. The acid maltase activity in mixed peripheral leukocytes was due to an isoenzyme of acid maltase in the granulocyte series. Antenatal diagnosis was accurate in a subsequent pregnancy, but discordance between enzyme activity in different cell lines in an individual with a genetic disease is a conceivable source of error in both prenatal and postnatal diagnoses.
我们报告一例II型糖原贮积病（庞贝氏病），具有该疾病的典型临床表现和特征性心电图改变。外周血白细胞酸性麦芽糖酶（EC 3.2.1.20）测定显示活性正常；然而，生前骨骼肌活检中酸性麦芽糖酶活性完全缺失。死后研究表明，在所检查的所有组织中，包括培养的皮肤成纤维细胞，酸性麦芽糖酶活性均缺失。大量糖原沉积与酶缺乏的定位相对应，但脑内除外，其糖原含量在正常范围内。混合外周血白细胞中的酸性麦芽糖酶活性归因于粒细胞系列中的酸性麦芽糖酶同工酶。在随后的妊娠中，产前诊断是准确的，但患有遗传疾病个体不同细胞系中酶活性的不一致是产前和产后诊断中一个可想象的误差来源。
