Palo J, Santavuori P, Haltia M
Riv Patol Nerv Ment. 1976 Aug;97(4):191-8.
The most common inborn error of glycoprotein catabolism appears to be aspartylglycosaminuria (AGU). It is characterized by deepening mental retardation, progressive lesions of connective tissue, and increased urinary excretion of aspartyglycosylamine. The first symptoms usually appear after 3 years of age and closely resemble those of Hurler's disease. The condition is a hereditary lysosomal storage disease due to a defective enzyme. The main clinical findings in a infantile type of neuronal ceroid-lipofuscinosis (INCL) are psychomotor retardation, visual failure, and a virtually isoelectric E.E.G. at the final stage of the disease. The symptoms of this hereditary disorder first appear between 8 and 18 months of age and the mean age at death is 6.5 years. Striking cerebral and cerebellar atrophy, together with neuronal loss and accumulation of lipofuscin-like material, can be observed at neuropathological examination.
最常见的糖蛋白分解代谢先天性缺陷似乎是天冬氨酰葡糖胺尿症（AGU）。其特征为智力迟钝加重、结缔组织进行性病变以及天冬氨酰葡糖胺尿排泄增加。最初症状通常在3岁后出现，与Hurler病的症状极为相似。该病症是一种由于酶缺陷导致的遗传性溶酶体贮积病。婴儿型神经元蜡样脂褐质沉积症（INCL）的主要临床症状为精神运动发育迟缓、视力减退以及在疾病末期脑电图几乎呈等电位。这种遗传性疾病的症状首次出现在8至18个月龄之间，平均死亡年龄为6.5岁。在神经病理学检查中可观察到明显的大脑和小脑萎缩，以及神经元丧失和类脂褐质物质的积累。
