Schmidt H, Ziegler R, Ullrich K, von Lengerke J H, Sewell A C
Institut für Klinische Radiologie, Westfälische Wilhelms-Universität Münster.
Rofo. 1988 Aug;149(2):143-6. doi: 10.1055/s-2008-1048313.
Two sibs showed delayed speech development, motor retardation and coarsening of their features during their second year of life. Radiological examination of the skeleton showed changes of dysostosis multiplex. Both children showed storage vacuoles in peripheral lymphocytes and a typical oligosaccharide-banded pattern on urinary chromatography. The diagnosis of aspartylglycosaminuria was confirmed by the demonstration of reduced activity of the enzyme aspartylglucosaminidase in leukocytes and in cultured fibroblasts. Treatment of this autosomal recessive inherited glycoprotein storage disease is not possible. Early recognition is important for genetic counselling of the family. This paper describes the first recognised cases in German literature.
两名同胞在生命的第二年出现语言发育迟缓、运动发育迟缓以及容貌变粗。骨骼的放射学检查显示出多发性骨发育异常的改变。两个孩子的外周淋巴细胞中均出现储存空泡，尿液色谱分析呈现典型的寡糖条带模式。通过证明白细胞和培养的成纤维细胞中天冬氨酰葡糖胺酶活性降低，确诊为天冬氨酰葡糖胺尿症。这种常染色体隐性遗传的糖蛋白储存病无法治疗。早期识别对于该家庭的遗传咨询很重要。本文描述了德国文献中首例被识别的病例。
