Näntö-Salonen K, Halme T, Penttinen R, Langevelde F V, Vis R D, Alfthan G
J Inherit Metab Dis. 1985;8(4):212-8. doi: 10.1007/BF01805438.
In aspartylglycosaminuria (AGU), a lysosomal storage disorder of glycoprotein degradation, there are some abnormalities in collagen and proteoglycan metabolism. Because of earlier observations suggesting a disturbance of copper balance, the metabolism of copper and zinc was studied in more detail to find out if possible trace metal disturbances could be correlated with connective tissue disorder. Highly elevated copper concentrations in the hair and significantly reduced zinc levels in serum and urine were detected in AGU patients indicating a disturbance of trace element balance. However, the patients had normal serum copper levels, and the concentrations of zinc and copper in cultured fibroblasts did not differ from those of control cells. Normal lysyl oxidase activities in cell culture indicate that collagen cross-link formation is not affected. The changes in copper and zinc balance are probably secondary to the basic enzyme deficiency, and may contribute to the development of the clinical signs and symptoms of AGU although the mechanisms involved are not yet understood.
在天冬氨酰葡糖胺尿症（AGU）中，这是一种糖蛋白降解的溶酶体贮积症，胶原蛋白和蛋白聚糖代谢存在一些异常。由于早期观察提示铜平衡紊乱，因此对铜和锌的代谢进行了更详细的研究，以确定是否可能存在的微量元素紊乱与结缔组织疾病相关。在AGU患者中检测到头发中铜浓度大幅升高，血清和尿液中锌水平显著降低，表明微量元素平衡受到干扰。然而，患者血清铜水平正常，培养的成纤维细胞中锌和铜的浓度与对照细胞无差异。细胞培养中赖氨酰氧化酶活性正常表明胶原蛋白交联形成未受影响。铜和锌平衡的变化可能继发于基本酶缺乏，尽管其涉及机制尚不清楚，但可能有助于AGU临床体征和症状的发展。
