Shanske S, Dimauro S
J Neurol Sci. 1981 Apr;50(1):57-62. doi: 10.1016/0022-510x(81)90041-1.
The activities of acid and neutral maltase were measured in lymphocytes, granulocytes, and platelets isolated from controls and from 5 patients with late-onset acid maltase deficiency (AMD). Lymphocytes from patients had markedly decreased activity of acid maltase and elevated neutral/acid ratios. In granulocytes, acid maltase was also lower than in controls, but significant activity was retained at pH 4: neutral/acid ratios were consistently elevated. Normal platelets had low acid and high neutral maltase activities: both enzyme activities varied within wide ranges and patients could not be distinguished from controls. The variable proportion of different cell types in unfractionated leukocyte preparations may yield unreliable values when used for detection of AMD. However, lymphocytes isolated from 20 ml of blood provide a readily accessible and reliable source of tissue for accurate diagnosis.
在从对照组以及5例晚发性酸性麦芽糖酶缺乏症（AMD）患者中分离出的淋巴细胞、粒细胞和血小板中，测定了酸性和中性麦芽糖酶的活性。患者的淋巴细胞酸性麦芽糖酶活性显著降低，中性/酸性比值升高。在粒细胞中，酸性麦芽糖酶也低于对照组，但在pH 4时仍保留显著活性：中性/酸性比值持续升高。正常血小板的酸性麦芽糖酶活性低，中性麦芽糖酶活性高：两种酶的活性在很宽的范围内变化，无法将患者与对照组区分开来。当用于检测AMD时，未分级白细胞制剂中不同细胞类型的可变比例可能会产生不可靠的值。然而，从20毫升血液中分离出的淋巴细胞为准确诊断提供了易于获取且可靠的组织来源。
