Yoshida K, Ikeda S, Yanagisawa N, Yamauchi T, Tsuji S, Hirabayashi Y
Department of Medicine (Neurology), Shinshu University School of Medicine, Matsumoto, Japan.
Clin Genet. 1991 Oct;40(4):318-25. doi: 10.1111/j.1399-0004.1991.tb03102.x.
Two members of a consanguineous Japanese family with a clinical picture of aspartylglycosaminuria (AGU) are described. Both patients exhibited mental retardation, coarse facial features, angiokeratoma and myoclonic seizures. Biochemical studies showed elevated excretion of urinary sialyloligosaccharides and decreased activity of aspartylglycosaminidase in lymphoblasts. Morphologic studies of skin biopsy specimens showed many clear vacuoles mainly in the vascular endothelial cells and secretory cells of the sweat glands. Osmiophilic lamellar cytoplasmic inclusions were also noted in the ganglion cells in rectal biopsy. The ethnic distribution of AGU may be more widespread than previously suspected and appears not to be restricted to Finnish populations. Ours are the first Japanese patients diagnosed as AGU. We conclude that AGU should also be included in the differential diagnosis of mentally retarded patients in Asian countries.
本文描述了一个患有天冬氨酰氨基葡糖苷酶缺乏症（AGU）临床表现的日本近亲家庭中的两名成员。两名患者均表现出智力迟钝、面容粗糙、血管角质瘤和肌阵挛性癫痫。生化研究表明，尿唾液酸寡糖排泄增加，淋巴母细胞中天冬氨酰氨基葡糖苷酶活性降低。皮肤活检标本的形态学研究显示，许多透明空泡主要存在于血管内皮细胞和汗腺分泌细胞中。直肠活检的神经节细胞中也发现了嗜锇性板层细胞质内含物。AGU的种族分布可能比以前怀疑的更为广泛，似乎并不局限于芬兰人群。我们的患者是首批被诊断为AGU的日本患者。我们得出结论，AGU也应纳入亚洲国家智力迟钝患者的鉴别诊断中。
