Severe hypoglycemia as a presenting symptom of carbohydrate-deficient glycoprotein syndrome

被引：76

作者：

Babovic-Vuksanovic, D

Patterson, MC

Schwenk, WF

O'Brien, JF

Vockley, J

Freeze, HH

Mehta, DP

Michels, VV

机构：

[1] Mayo Clin & Mayo Fdn, Dept Med Genet, Dept Pediat & Adolescent Med, Rochester, MN 55905 USA

[2] Mayo Clin & Mayo Fdn, Dept Pathol & Lab Med, Rochester, MN 55905 USA

[3] Burnham Inst, La Jolla, CA 92037 USA

来源：

JOURNAL OF PEDIATRICS | 1999年 / 135卷 / 06期

关键词：

D O I：

10.1016/S0022-3476(99)70103-4

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

We describe clinical, biochemical, and molecular findings in a 21/2 year-old girl with a phosphomannose isomerase deficiency who presented with severe and persistent hypoglycemia and subsequently developed protein-losing enteropathy liver disease, and coagulopathy. Six months of therapy with mannose supplementation resulted in clinical improvement and partial correction of biochemical abnormalities.

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收藏

页码：775 / 781

页数：7

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