Continuous mannose infusion in carbohydrate-deficient glycoprotein syndrome type I

被引：57

作者：

Mayatepek, E ^{[1
]}

Schroder, M ^{[1
]}

Kohlmuller, D ^{[1
]}

Bieger, WP ^{[1
]}

Nutzenadel, W ^{[1
]}

机构：

[1] MED IMMUNOL LABS,MUNICH,GERMANY

来源：

ACTA PAEDIATRICA | 1997年 / 86卷 / 10期

关键词：

carbohydrate-deficient glycoprotein syndrome; isoelectrofocusing; mannose; phosphomannomutase deficiency;

D O I：

10.1111/j.1651-2227.1997.tb14825.x

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

The effects on isoelectrofocusing patterns of serum glycoproteins were studied in a patient with CDG syndrome type I and phosphomannomutase deficiency during 3 weeks of continuous intravenous mannose infusion. Doses of 5.7 g/kg/day led to stable serum mannose levels up to 2.0 mmol/l and were well tolerated without signs of liver or renal toxicity. While most of the pathological glycoprotein patterns, including alpha(1)-antitrypsin, typical for CDG syndrome type I remained unchanged, mannose infusion led to a unique change of the isoelectrofocusing pattern of serum sialotransferrins with appearance of two extra bands after 3 weeks of treatment.

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收藏

页码：1138 / 1140

页数：3

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