部分A型黏多糖贮积症IV型患者存在糖蛋白神经氨酸酶部分缺乏的情况。

Partial deficiency of glycoprotein neuraminidase in some patients with Morquio disease type A.

作者信息

Glössl J, Kresse H, Mendla K, Cantz M, Rosenkranz W

出版信息

Pediatr Res. 1984 Mar;18(3):302-5. doi: 10.1203/00006450-198403000-00025.

DOI:10.1203/00006450-198403000-00025

Abstract

A deficiency of glycoprotein neuraminidase (sialidase, acylneuraminyl hydrolase, EC 3.2.1.18) activity was found in fibroblasts from a patient with the clinical symptoms of Morquio disease type A (mucopolysaccharidosis IV A). Residual neuraminidase activity was about 5% of the mean normal activity. N-Acetylgalactosamine-6-sulfate (GalNAc-6-S) sulfatase activity was reduced to less than 1% of normal with a pH-optimum of 3.0 as expected for the severe form of Morquio disease. In peripheral leucocytes of the patient, however, neuraminidase activity but not Ga1NAc-6-S sulfatase activity was in the normal range. Mixing experiments excluded the presence of excessive amounts of inhibitors of neuraminidase activity.

摘要

在一名患有A型莫尔基奥氏病（黏多糖贮积症IV A型）临床症状的患者的成纤维细胞中，发现糖蛋白神经氨酸酶（唾液酸酶、酰基神经氨酸水解酶，EC 3.2.1.18）活性存在缺陷。残余神经氨酸酶活性约为正常平均活性的5%。N-乙酰半乳糖胺-6-硫酸盐（GalNAc-6-S）硫酸酯酶活性降至正常水平的不到1%，其最适pH为3.0，这与莫尔基奥氏病的严重形式预期相符。然而，在该患者的外周血白细胞中，神经氨酸酶活性处于正常范围，而GalNAc-6-S硫酸酯酶活性则不然。混合实验排除了存在过量神经氨酸酶活性抑制剂的可能性。