Stevens R L, Fluharty A L, Kihara H, Kaback M M, Shapiro L J, Marsh B, Sandhoff K, Fischer G
Am J Hum Genet. 1981 Nov;33(6):900-6.
Two siblings of consanguineous parents had presented with a variety of findings indicative of juvenile metachromatic leukodystrophy (MLD). However, instead of the expected profound deficiency of arylsulfatase A (ARS A), their enzyme levels were about half-normal, and enzyme from fibroblasts had properties identical with the properties of enzyme from normal fibroblasts. Nevertheless, the hydrolysis of cerebroside sulfate by growing fibroblasts was markedly attenuated. Supplementation of the fibroblasts with cerebroside sulfatase activator normalized the response in the loading test. These results imply that the fibroblasts, and by extension the patients, are deficient in activator. Although the defective catabolism of cerebroside sulfate and the clinical manifestations in these patients mimic MLD, the molecular basis is distinct from the classical forms of the disorder.
一对近亲结婚父母的两个孩子出现了多种表明患有青少年型异染性脑白质营养不良（MLD）的症状。然而，他们的芳基硫酸酯酶A（ARS A）水平并非预期的严重缺乏，而是约为正常水平的一半，并且来自成纤维细胞的酶的特性与正常成纤维细胞的酶的特性相同。尽管如此，生长中的成纤维细胞对硫酸脑苷脂的水解作用明显减弱。用硫酸脑苷脂酶激活剂补充成纤维细胞可使负荷试验中的反应恢复正常。这些结果表明，成纤维细胞以及由此推断患者缺乏激活剂。虽然这些患者中硫酸脑苷脂的分解代谢缺陷和临床表现类似于MLD，但其分子基础与该疾病的经典形式不同。
