Maury C P
J Inherit Metab Dis. 1982;5(4):192-6. doi: 10.1007/BF02179139.
Aspartylglycosaminuria (AGU, McKusick 20840) is a metabolic disorder affecting the catabolism of glycoproteins. It was first described in 1967, by Jenner and Pollitt, in two mentally retarded English siblings. Subsequently several cases were reported from Finland (Palo and Mattsson, 1970; Autio, 1972; Autio et al., 1973). Today the number of known cases is about 140, most of them Finnish or of Finnish origin (Aula et al., 1980). The incidence of AGU in Finland has been estimated to be approximately 1:26000 and the disease is inherited as an autosomal recessive trait (Autio et al., 1973). Clinical manifestations include progressive mental retardation, coarse gargoyle-like facial features, skeletal abnormalities and recurrent infections. Early development of the patients is usually normal, but by the age of 5-15 years they are already severely retarded (Autio, 1972; Autio et al., 1973). Morphologically AGU is a generalized storage disease (Haltia et al., 1975). Affected tissues show enlarged lysosomes. Vacuolization is a prominent feature of liver and nerve cells (Haltia et al., 1975) and of peripheral lymphocytes (Aula et al., 1975).
天冬氨酰氨基葡糖苷尿症（AGU，麦库西克编号20840）是一种影响糖蛋白分解代谢的代谢紊乱疾病。1967年，詹纳和波利特首次在两名智力发育迟缓的英国兄妹身上描述了这种疾病。随后，芬兰报告了几例病例（帕洛和马特松，1970年；奥蒂奥，1972年；奥蒂奥等人，1973年）。如今，已知病例数约为140例，其中大多数是芬兰人或有芬兰血统（奥拉等人，1980年）。据估计，AGU在芬兰的发病率约为1:26000，该疾病以常染色体隐性性状遗传（奥蒂奥等人，1973年）。临床表现包括进行性智力发育迟缓、类似丑角的粗糙面部特征、骨骼异常和反复感染。患者的早期发育通常正常，但到5至15岁时，他们已经严重发育迟缓（奥蒂奥，1972年；奥蒂奥等人，1973年）。从形态学上讲，AGU是一种全身性贮积病（哈尔蒂亚等人，1975年）。受影响的组织显示溶酶体增大。空泡化是肝脏和神经细胞（哈尔蒂亚等人，1975年）以及外周淋巴细胞（奥拉等人，1975年）的一个突出特征。
