Marcucci F, Rufini S, Sensi L
Clin Chim Acta. 1982 Apr 8;120(2):161-70. doi: 10.1016/0009-8981(82)90152-8.
Abnormal urinary excretion of acid mucopolysaccharides in two children affected with Albers-Schönberg disease is described. The urine specimens were first checked for their acid glycosaminoglycan (AGAG) content by a screening test. The AGAGs were then evaluated by uronic acid determination using the carbazole method, and the ratio between high molecular mass and low molecular mass AGAGs was determined. Qualitative characterization, before and after enzymatic digestion with chondroitinases AC (ChAC) and ABC (ChABC), of the total AGAGs contained in the specimen and of each AGAG separated with Dowex 1X2 was also performed by electrophoresis. The pattern of the urinary mucopolysaccharides in the two patients showed an abnormal quantity of heparan sulphate (HS) and a smaller quantity of dermatan sulphate (DS). Such abnormal urinary AGAGs excretion should confirm the assumption of some authors that malignant infantile osteopetrosis may be caused by a deficiency in the lysosomal enzymatic activity, or by some anomaly in the cell membrane function.
本文描述了两名患有阿尔伯斯-尚伯格病（Albers-Schönberg disease）儿童的酸性粘多糖尿排泄异常情况。首先通过筛查试验检查尿液标本中的酸性糖胺聚糖（AGAG）含量。然后使用咔唑法通过测定糖醛酸来评估AGAG，并确定高分子量与低分子量AGAG之间的比例。还通过电泳对标本中所含总AGAG以及用Dowex 1X2分离的每种AGAG在用软骨素酶AC（ChAC）和ABC（ChABC）进行酶消化前后进行定性表征。两名患者的尿粘多糖模式显示硫酸乙酰肝素（HS）数量异常，硫酸皮肤素（DS）数量较少。这种异常的尿AGAG排泄应证实一些作者的假设，即恶性婴儿骨硬化症可能是由溶酶体酶活性缺乏或细胞膜功能的某些异常引起的。
