Gehler J, Sewell A C, Becker C, Hartmann J, Spranger J
Helv Paediatr Acta. 1981;36(2):179-89.
Two members of a consanguineous Italian family are described with the symptoms of aspartylglycosaminuria. Both patients exhibit mental retardation, some facial dysmorphism and discrete radiological abnormalities affecting the skull and vertebrae. Peripheral blood smears revealed multivacuolated lymphocytes. Enzyme studies in leucocytes and cultured fibroblasts showed an absence of aspartylglucosaminidase activity. Urinary analysis demonstrated abnormal oligosacchariduria and aspartylglycosamine excretion. Angiokeratoma corporis diffusum was observed in one patient.
本文描述了一个意大利近亲家庭中的两名成员，他们患有天冬氨酰氨基葡糖苷尿症的症状。两名患者均表现出智力发育迟缓、一些面部畸形以及影响颅骨和椎骨的离散性放射学异常。外周血涂片显示多泡状淋巴细胞。白细胞和培养的成纤维细胞中的酶研究表明缺乏天冬氨酰葡糖胺酶活性。尿液分析显示异常的低聚糖尿和天冬氨酰氨基葡糖排泄。在一名患者中观察到全身性弥漫性血管角质瘤。
